nsv3898185
- 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:155,970,330
- 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: 234622 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 233755 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 38272 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 |
|---|---|---|---|---|---|---|---|
| nsv3898185 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 26,102 | 155,996,431 |
| nsv3898185 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 76,102 | 155,226,096 |
| nsv3898185 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 16,102 | 154,879,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161046 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052984.6, VCV000161091.2 | 3 |
| nssv15161740 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052986.7, VCV000161088.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161046 | Submitted genomic | NC_000023.11:g.(?_ 26102)_(155996431_ ?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 26,102 | 155,996,431 |
| nssv15161740 | Submitted genomic | NC_000023.11:g.(?_ 26102)_(155996431_ ?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 26,102 | 155,996,431 |
| nssv15161046 | Submitted genomic | NC_000023.10:g.(?_ 76102)_(155226096_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 76,102 | 155,226,096 |
| nssv15161740 | Submitted genomic | NC_000023.10:g.(?_ 76102)_(155226096_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 76,102 | 155,226,096 |
| nssv15161046 | Submitted genomic | NC_000023.9:g.(?_1 6102)_(154879290_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 16,102 | 154,879,290 |
| nssv15161740 | Submitted genomic | NC_000023.9:g.(?_1 6102)_(154879290_? )del | NCBI36 (hg18) | NC_000023.9 | ChrX | 16,102 | 154,879,290 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161046 | GRCh37: NC_000023.10:g.(?_76102)_(155226096_?)dup, GRCh38: NC_000023.11:g.(?_26102)_(155996431_?)dup, NCBI36: NC_000023.9:g.(?_16102)_(154879290_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052984.6, VCV000161091.2 | 3 |
| nssv15161740 | GRCh37: NC_000023.10:g.(?_76102)_(155226096_?)del, GRCh38: NC_000023.11:g.(?_26102)_(155996431_?)del, NCBI36: NC_000023.9:g.(?_16102)_(154879290_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052986.7, VCV000161088.2 | 1 |