nsv3891513
- 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:90,669
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000141674.5
- ClinVar: RCV000143382.4
- ClinVar: VCV000153204.2
- ClinVar: VCV000155315.2
- dbVar: nssv13638898
- dbVar: nssv13640931
- dbVar: nssv13641131
- dbVar: nssv13650926
- dbVar: nssv13651457
- dbVar: nssv13655436
- dbVar: nssv3396754
- dbVar: nssv3397315
- dbVar: nssv3397425
- dbVar: nsv995204
- 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: 307 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 307 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3891513 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 77,799,457 | 77,890,125 |
| nsv3891513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 77,054,954 | 77,145,622 |
| nsv3891513 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 76,941,610 | 77,032,278 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138619 | copy number gain | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000141674.5, VCV000153204.2 | 3 |
| nssv15138823 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143382.4, VCV000155315.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138619 | Submitted genomic | NC_000023.11:g.(?_ 77799457)_(7789012 5_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 77,799,457 | 77,890,125 |
| nssv15138823 | Submitted genomic | NC_000023.11:g.(?_ 77799457)_(7789012 5_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 77,799,457 | 77,890,125 |
| nssv15138619 | Submitted genomic | NC_000023.10:g.(?_ 77054954)_(7714562 2_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 77,054,954 | 77,145,622 |
| nssv15138823 | Submitted genomic | NC_000023.10:g.(?_ 77054954)_(7714562 2_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 77,054,954 | 77,145,622 |
| nssv15138823 | Submitted genomic | NC_000023.9:g.(?_7 6941610)_(77032278 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 76,941,610 | 77,032,278 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138619 | GRCh37: NC_000023.10:g.(?_77054954)_(77145622_?)dup, GRCh38: NC_000023.11:g.(?_77799457)_(77890125_?)dup | copy number gain | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000141674.5, VCV000153204.2 | 3 |
| nssv15138823 | GRCh37: NC_000023.10:g.(?_77054954)_(77145622_?)dup, GRCh38: NC_000023.11:g.(?_77799457)_(77890125_?)dup, NCBI36: NC_000023.9:g.(?_76941610)_(77032278_?)dup | copy number gain | see ClinVar for details | See cases | Uncertain significance | ClinVar | RCV000143382.4, VCV000155315.2 | 2 |