nsv3887722
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:155,752,188
- 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: 233954 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 233185 SVs from 119 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3887722 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
nsv3887722 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,546 | 155,233,731 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15773029 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848828.2, VCV000688137.2 | 1 |
nssv15774533 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846039.2, VCV000685331.2 | 4 |
nssv17956920 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001829212.1, VCV001341223.1 | 3 |
nssv17957232 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834509.1, VCV001341233.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15773029 | Remapped | Good | NC_000023.11:g.(?_ 251879)_(156004066 _?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
nssv15774533 | Remapped | Good | NC_000023.11:g.(?_ 251879)_(156004066 _?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
nssv17956920 | Remapped | Good | NC_000023.11:g.(?_ 251879)_(156004066 _?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
nssv17957232 | Remapped | Good | NC_000023.11:g.(?_ 251879)_(156004066 _?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
nssv15773029 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(155233731 _?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 155,233,731 | ||
nssv15774533 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(155233731 _?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 155,233,731 | ||
nssv17956920 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(155233731 _?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 155,233,731 | ||
nssv17957232 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(155233731 _?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 155,233,731 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15773029 | GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848828.2, VCV000688137.2 | 1 |
nssv15774533 | GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000846039.2, VCV000685331.2 | 4 |
nssv17956920 | GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001829212.1, VCV001341223.1 | 3 |
nssv17957232 | GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001834509.1, VCV001341233.1 | 1 |