nsv4384396
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,892
- 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: 2592 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2592 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4384396 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nsv4384396 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613561 | copy number loss | 1-0689-003 | SNP array | Genotyping | 24 |
| nssv15629439 | copy number loss | 1-0559-004 | SNP array | Genotyping | 24 |
| nssv15630187 | copy number loss | 1-0555-001 | SNP array | Genotyping | 14 |
| nssv15637439 | copy number loss | 13-0095-002 | SNP array | Genotyping | 22 |
| nssv15640310 | copy number loss | 14-0145-003 | SNP array | Genotyping | 15 |
| nssv15642823 | copy number loss | 14-0385-003 | SNP array | Genotyping | 21 |
| nssv15648517 | copy number loss | 2-1334-003 | SNP array | Genotyping | 20 |
| nssv15651808 | copy number loss | 2-1569-003 | SNP array | Genotyping | 16 |
| nssv15653025 | copy number loss | 2-1583-003 | SNP array | Genotyping | 27 |
| nssv15658266 | copy number loss | 4-0026-001 | SNP array | Genotyping | 17 |
| nssv15659799 | copy number loss | 4-0073-002 | SNP array | Genotyping | 24 |
| nssv15659844 | copy number loss | 4-0073-004 | SNP array | Genotyping | 24 |
| nssv15663147 | copy number loss | 4-0054-003 | SNP array | Genotyping | 25 |
| nssv15667141 | copy number loss | 7-0121-003 | SNP array | Genotyping | 22 |
| nssv15669130 | copy number loss | 7-0134-003 | SNP array | Genotyping | 20 |
| nssv15679496 | copy number loss | 237208S | SNP array | Genotyping | 24 |
| nssv15681327 | copy number loss | OCD10-S_896172 | SNP array | Genotyping | 22 |
| nssv15686397 | copy number loss | OCD135-896461 | SNP array | Genotyping | 12 |
| nssv15692965 | copy number loss | OCD79-896723 | SNP array | Genotyping | 20 |
| nssv15696442 | copy number loss | 200763 | SNP array | Genotyping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613561 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15629439 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15630187 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15637439 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15640310 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15642823 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15648517 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15651808 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15653025 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15658266 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15659799 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15659844 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15663147 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15667141 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15669130 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15679496 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15681327 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15686397 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15692965 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15696442 | Remapped | Perfect | NC_000006.12:g.(?_ 78252576)_(7832546 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,576 | 78,325,467 |
| nssv15613561 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15629439 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15630187 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15637439 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15640310 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15642823 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15648517 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15651808 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15653025 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15658266 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15659799 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15659844 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15663147 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15667141 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15669130 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15679496 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15681327 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15686397 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15692965 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 | ||
| nssv15696442 | Submitted genomic | NC_000006.11:g.(?_ 78962293)_(7903518 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,293 | 79,035,184 |