nsv3913948
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:516,615
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000050432.13
- ClinVar: RCV000050433.12
- ClinVar: RCV000148134.4
- ClinVar: VCV000032558.2
- ClinVar: VCV000034167.3
- ClinVar: VCV000160889.1
- dbVar: nssv14082110
- dbVar: nssv14082234
- dbVar: nssv3395995
- dbVar: nssv3396637
- dbVar: nssv575433
- dbVar: nssv575813
- dbVar: nssv576302
- dbVar: nssv576303
- dbVar: nssv576388
- dbVar: nssv576439
- dbVar: nssv579839
- dbVar: nssv579840
- dbVar: nssv579841
- dbVar: nssv579843
- dbVar: nssv579844
- dbVar: nssv579845
- dbVar: nssv579846
- dbVar: nssv579847
- dbVar: nssv579848
- dbVar: nssv579849
- dbVar: nssv579855
- dbVar: nssv579856
- dbVar: nssv579857
- dbVar: nssv582294
- dbVar: nssv582309
- dbVar: nssv582456
- dbVar: nssv582528
- dbVar: nssv582603
- dbVar: nssv582680
- dbVar: nssv582819
- dbVar: nssv583205
- dbVar: nssv706414
- dbVar: nssv706416
- dbVar: nsv1067736
- dbVar: nsv529110
- Overlapping Genes
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: 1840 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1840 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913948 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 29,662,633 | 30,179,247 |
| nsv3913948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,673,954 | 30,190,568 |
| nsv3913948 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 29,581,455 | 30,098,069 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132491 | copy number gain | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000050432.13, VCV000034167.3 | 3 |
| nssv15132492 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050433.12, VCV000032558.2 | 1 |
| nssv15139693 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148134.4, VCV000160889.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132491 | Submitted genomic | NC_000016.10:g.(?_ 29662633)_(3017924 7_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 29,662,633 | 30,179,247 |
| nssv15132492 | Submitted genomic | NC_000016.10:g.(?_ 29662633)_(3017924 7_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 29,662,633 | 30,179,247 |
| nssv15139693 | Submitted genomic | NC_000016.10:g.(?_ 29662633)_(3017924 7_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 29,662,633 | 30,179,247 |
| nssv15132491 | Submitted genomic | NC_000016.9:g.(?_2 9673954)_(30190568 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,673,954 | 30,190,568 |
| nssv15132492 | Submitted genomic | NC_000016.9:g.(?_2 9673954)_(30190568 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,673,954 | 30,190,568 |
| nssv15139693 | Submitted genomic | NC_000016.9:g.(?_2 9673954)_(30190568 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,673,954 | 30,190,568 |
| nssv15132491 | Submitted genomic | NC_000016.8:g.(?_2 9581455)_(30098069 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 29,581,455 | 30,098,069 |
| nssv15132492 | Submitted genomic | NC_000016.8:g.(?_2 9581455)_(30098069 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 29,581,455 | 30,098,069 |
| nssv15139693 | Submitted genomic | NC_000016.8:g.(?_2 9581455)_(30098069 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 29,581,455 | 30,098,069 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132491 | GRCh37: NC_000016.9:g.(?_29673954)_(30190568_?)dup, GRCh38: NC_000016.10:g.(?_29662633)_(30179247_?)dup, NCBI36: NC_000016.8:g.(?_29581455)_(30098069_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000050432.13, VCV000034167.3 | 3 |
| nssv15132492 | GRCh37: NC_000016.9:g.(?_29673954)_(30190568_?)del, GRCh38: NC_000016.10:g.(?_29662633)_(30179247_?)del, NCBI36: NC_000016.8:g.(?_29581455)_(30098069_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000050433.12, VCV000032558.2 | 1 |
| nssv15139693 | GRCh37: NC_000016.9:g.(?_29673954)_(30190568_?)del, GRCh38: NC_000016.10:g.(?_29662633)_(30179247_?)del, NCBI36: NC_000016.8:g.(?_29581455)_(30098069_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000148134.4, VCV000160889.1 | 1 |