nsv4377240
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:160,629
- 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: 2067 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2067 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nsv4377240 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15617853 | copy number gain | 1-0853-003 | SNP array | Genotyping | 22 |
| nssv15625842 | copy number gain | 1-0389-004 | SNP array | Genotyping | 15 |
| nssv15629707 | copy number gain | 1-0568-003 | SNP array | Genotyping | 17 |
| nssv15643609 | copy number gain | 2-0003-003 | SNP array | Genotyping | 18 |
| nssv15643680 | copy number gain | 2-0018-004 | SNP array | Genotyping | 16 |
| nssv15645086 | copy number gain | 2-0323-002 | SNP array | Genotyping | 21 |
| nssv15646713 | copy number gain | 2-0305-003 | SNP array | Genotyping | 17 |
| nssv15647583 | copy number gain | 2-0305-004 | SNP array | Genotyping | 20 |
| nssv15650078 | copy number gain | 2-1292-004 | SNP array | Genotyping | 14 |
| nssv15652775 | copy number gain | 2-1529-003 | SNP array | Genotyping | 13 |
| nssv15653591 | copy number gain | 2-1595-003 | SNP array | Genotyping | 16 |
| nssv15665628 | copy number gain | 7-0081-003 | SNP array | Genotyping | 21 |
| nssv15666210 | copy number gain | 5-0087-002 | SNP array | Genotyping | 24 |
| nssv15677629 | copy number gain | 215808 | SNP array | Genotyping | 29 |
| nssv15677681 | copy number gain | 232713S | SNP array | Genotyping | 24 |
| nssv15677935 | copy number gain | 227245 | SNP array | Genotyping | 11 |
| nssv15688284 | copy number gain | 214101 | SNP array | Genotyping | 25 |
| nssv15694619 | copy number gain | 203492 | SNP array | Genotyping | 17 |
| nssv15696249 | copy number gain | 157170 | SNP array | Genotyping | 15 |
| nssv15701014 | copy number loss | 202165 | SNP array | Genotyping | 18 |
| nssv15702394 | copy number gain | 153923 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15617853 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15625842 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15629707 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15643609 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15643680 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15645086 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15646713 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15647583 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15650078 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15652775 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15653591 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15665628 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15666210 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15677629 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15677681 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15677935 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15688284 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15694619 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15696249 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15701014 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15702394 | Remapped | Perfect | NC_000008.11:g.(?_ 39368817)_(3952944 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,368,817 | 39,529,445 |
| nssv15617853 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15625842 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15629707 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15643609 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15643680 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15645086 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15646713 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15647583 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15650078 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15652775 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15653591 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15665628 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15666210 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15677629 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15677681 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15677935 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15688284 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15694619 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15696249 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15701014 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 | ||
| nssv15702394 | Submitted genomic | NC_000008.10:g.(?_ 39226336)_(3938696 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,226,336 | 39,386,964 |