nsv3903163
- 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: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
Overlapping variant regions from other studies: 38262 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 |
|---|---|---|---|---|---|---|---|
| nsv3903163 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
| nsv3903163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,546 | 155,233,731 |
| nsv3903163 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 108,546 | 154,886,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161576 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143433.5, VCV000155366.2 | 3 |
| nssv15161811 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143441.5, VCV000155374.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161576 | Submitted genomic | NC_000023.11:g.(?_ 251879)_(156004066 _?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
| nssv15161811 | Submitted genomic | NC_000023.11:g.(?_ 251879)_(156004066 _?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 251,879 | 156,004,066 |
| nssv15161576 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(155233731 _?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 155,233,731 |
| nssv15161811 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(155233731 _?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 155,233,731 |
| nssv15161811 | Submitted genomic | NC_000023.9:g.(?_1 08546)_(154886925_ ?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 108,546 | 154,886,925 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161576 | GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)dup, GRCh38: NC_000023.11:g.(?_251879)_(156004066_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143433.5, VCV000155366.2 | 3 |
| nssv15161811 | GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)del, GRCh38: NC_000023.11:g.(?_251879)_(156004066_?)del, NCBI36: NC_000023.9:g.(?_108546)_(154886925_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143441.5, VCV000155374.2 | 1 |