nsv4387832
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:38
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,597
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1039 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1040 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387832 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nsv4387832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612152 | copy number loss | 1-0013-003 | SNP array | Genotyping | 27 |
| nssv15615850 | copy number loss | 1-0787-003 | SNP array | Genotyping | 14 |
| nssv15616635 | copy number gain | 1-0864-003 | SNP array | Genotyping | 20 |
| nssv15616995 | copy number loss | 1-0833-003 | SNP array | Genotyping | 28 |
| nssv15624785 | copy number loss | 1-0403-003 | SNP array | Genotyping | 31 |
| nssv15625531 | copy number loss | 1-0051-005 | SNP array | Genotyping | 20 |
| nssv15625947 | copy number loss | 1-0432-005 | SNP array | Genotyping | 21 |
| nssv15626791 | copy number loss | 1-0449-004 | SNP array | Genotyping | 23 |
| nssv15627231 | copy number loss | 1-0479-007 | SNP array | Genotyping | 21 |
| nssv15629376 | copy number loss | 1-0541-006 | SNP array | Genotyping | 16 |
| nssv15630140 | copy number loss | 1-0634-003 | SNP array | Genotyping | 18 |
| nssv15633590 | copy number loss | 11-0030-003 | SNP array | Genotyping | 15 |
| nssv15645304 | copy number loss | 2-0129-004 | SNP array | Genotyping | 21 |
| nssv15645325 | copy number loss | 2-0129-005 | SNP array | Genotyping | 16 |
| nssv15646607 | copy number loss | 2-1269-003 | SNP array | Genotyping | 17 |
| nssv15647238 | copy number loss | 2-1085-004 | SNP array | Genotyping | 20 |
| nssv15649156 | copy number loss | 2-1258-002 | SNP array | Genotyping | 14 |
| nssv15650294 | copy number loss | 2-1337-002 | SNP array | Genotyping | 24 |
| nssv15650594 | copy number loss | 2-1336-002 | SNP array | Genotyping | 17 |
| nssv15650610 | copy number loss | 2-1336-003 | SNP array | Genotyping | 15 |
| nssv15652559 | copy number loss | 2-1561-003 | SNP array | Genotyping | 18 |
| nssv15652767 | copy number loss | 2-1529-003 | SNP array | Genotyping | 13 |
| nssv15655655 | copy number loss | 2-1702-003 | SNP array | Genotyping | 25 |
| nssv15656622 | copy number loss | 3-0027-101 | SNP array | Genotyping | 13 |
| nssv15658721 | copy number loss | 3-0548-000 | SNP array | Genotyping | 13 |
| nssv15659073 | copy number loss | 4-0061-003 | SNP array | Genotyping | 28 |
| nssv15662582 | copy number loss | 5-0074-002 | SNP array | Genotyping | 24 |
| nssv15668449 | copy number gain | 7-0222-003 | SNP array | Genotyping | 25 |
| nssv15670753 | copy number loss | 7-0277-003 | SNP array | Genotyping | 18 |
| nssv15673735 | copy number loss | 227576 | SNP array | Genotyping | 15 |
| nssv15681119 | copy number loss | 193295 | SNP array | Genotyping | 21 |
| nssv15684334 | copy number loss | OCD1138-7542 | SNP array | Genotyping | 23 |
| nssv15686199 | copy number loss | OCD20-S_896382 | SNP array | Genotyping | 23 |
| nssv15686671 | copy number loss | OCD16-B_CW-1426 | SNP array | Genotyping | 21 |
| nssv15687624 | copy number loss | OCD172-GW-376_1811 | SNP array | Genotyping | 22 |
| nssv15693200 | copy number loss | OCD88-0625-0648-1 | SNP array | Genotyping | 22 |
| nssv15696238 | copy number loss | 157170 | SNP array | Genotyping | 15 |
| nssv15700920 | copy number loss | 228636 | SNP array | Genotyping | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612152 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15615850 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15616635 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15616995 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15624785 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15625531 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15625947 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15626791 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15627231 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15629376 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15630140 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15633590 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15645304 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15645325 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15646607 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15647238 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15649156 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15650294 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15650594 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15650610 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15652559 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15652767 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15655655 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15656622 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15658721 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15659073 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15662582 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15668449 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15670753 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15673735 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15681119 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15684334 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15686199 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15686671 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15687624 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15693200 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15696238 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15700920 | Remapped | Perfect | NC_000012.12:g.(?_ 11064218)_(1110381 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,064,218 | 11,103,814 |
| nssv15612152 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15615850 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15616635 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15616995 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15624785 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15625531 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15625947 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15626791 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15627231 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15629376 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15630140 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15633590 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15645304 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15645325 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15646607 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15647238 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15649156 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15650294 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15650594 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15650610 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15652559 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15652767 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15655655 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15656622 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15658721 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15659073 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15662582 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15668449 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15670753 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15673735 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15681119 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15684334 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15686199 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15686671 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15687624 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15693200 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15696238 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 | ||
| nssv15700920 | Submitted genomic | NC_000012.11:g.(?_ 11216817)_(1125641 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,216,817 | 11,256,413 |