nsv3910902
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,826,007
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17342 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 17438 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 5376 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910902 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 23,328,044 | 28,154,050 |
| nsv3910902 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 23,569,415 | 28,399,196 |
| nsv3910902 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 21,120,856 | 26,072,791 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148037 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135313.5, VCV000145987.3 | 1 |
| nssv15148901 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140622.5, VCV000151937.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148037 | Submitted genomic | NC_000015.10:g.(?_ 23328044)_(2815405 0_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 23,328,044 | 28,154,050 |
| nssv15148901 | Submitted genomic | NC_000015.10:g.(?_ 23328044)_(2815405 0_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 23,328,044 | 28,154,050 |
| nssv15148037 | Submitted genomic | NC_000015.9:g.(?_2 2860857)_(28399196 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,860,857 | 28,399,196 |
| nssv15148901 | Submitted genomic | NC_000015.9:g.(?_2 3569415)_(28399196 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 23,569,415 | 28,399,196 |
| nssv15148037 | Submitted genomic | NC_000015.8:g.(?_2 0412298)_(26072791 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,412,298 | 26,072,791 |
| nssv15148901 | Submitted genomic | NC_000015.8:g.(?_2 1120856)_(26072791 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 21,120,856 | 26,072,791 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148037 | GRCh37: NC_000015.9:g.(?_22860857)_(28399196_?)del, GRCh38: NC_000015.10:g.(?_23328044)_(28154050_?)del, NCBI36: NC_000015.8:g.(?_20412298)_(26072791_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135313.5, VCV000145987.3 | 1 |
| nssv15148901 | GRCh37: NC_000015.9:g.(?_23569415)_(28399196_?)dup, GRCh38: NC_000015.10:g.(?_23328044)_(28154050_?)dup, NCBI36: NC_000015.8:g.(?_21120856)_(26072791_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000140622.5, VCV000151937.3 | 3 |