nsv3318817
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,143
- Publication(s):Frenkel 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: 1583 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1386 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 40,818,615 | 40,909,757 |
| nsv3318817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 66,771,643 | 66,862,785 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467688 | copy number loss | M1206 | SNP array | SNP genotyping analysis | 63 |
| nssv14468171 | copy number loss | M2132 | SNP array | SNP genotyping analysis | 25 |
| nssv14468355 | copy number loss | M2143 | SNP array | SNP genotyping analysis | 20 |
| nssv14470024 | copy number loss | M2297 | SNP array | SNP genotyping analysis | 19 |
| nssv14470913 | copy number gain | M2391 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467688 | Remapped | Perfect | NC_000009.12:g.(?_ 40818615)_(4090975 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 40,818,615 | 40,909,757 |
| nssv14468171 | Remapped | Perfect | NC_000009.12:g.(?_ 40818615)_(4090975 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 40,818,615 | 40,909,757 |
| nssv14468355 | Remapped | Perfect | NC_000009.12:g.(?_ 40818615)_(4090975 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 40,818,615 | 40,909,757 |
| nssv14470024 | Remapped | Perfect | NC_000009.12:g.(?_ 40818615)_(4090975 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 40,818,615 | 40,909,757 |
| nssv14470913 | Remapped | Perfect | NC_000009.12:g.(?_ 40818615)_(4090975 7_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 40,818,615 | 40,909,757 |
| nssv14467688 | Submitted genomic | NC_000009.11:g.(?_ 66771643)_(6686278 5_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 66,771,643 | 66,862,785 | ||
| nssv14468171 | Submitted genomic | NC_000009.11:g.(?_ 66771643)_(6686278 5_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 66,771,643 | 66,862,785 | ||
| nssv14468355 | Submitted genomic | NC_000009.11:g.(?_ 66771643)_(6686278 5_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 66,771,643 | 66,862,785 | ||
| nssv14470024 | Submitted genomic | NC_000009.11:g.(?_ 66771643)_(6686278 5_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 66,771,643 | 66,862,785 | ||
| nssv14470913 | Submitted genomic | NC_000009.11:g.(?_ 66771643)_(6686278 5_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 66,771,643 | 66,862,785 |