nsv3904950
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,564,592
- Description:GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 19214 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 19215 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 5221 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904950 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 166,762,832 | 175,327,423 |
| nsv3904950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 166,732,069 | 175,296,559 |
| nsv3904950 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 164,998,693 | 173,563,182 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132991 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053917.5, VCV000060045.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132991 | Submitted genomic | NC_000001.11:g.(?_ 166762832)_(175327 423_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 166,762,832 | 175,327,423 |
| nssv15132991 | Submitted genomic | NC_000001.10:g.(?_ 166732069)_(175296 559_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 166,732,069 | 175,296,559 |
| nssv15132991 | Submitted genomic | NC_000001.9:g.(?_1 64998693)_(1735631 82_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 164,998,693 | 173,563,182 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132991 | GRCh37: NC_000001.10:g.(?_166732069)_(175296559_?)del, GRCh38: NC_000001.11:g.(?_166762832)_(175327423_?)del, NCBI36: NC_000001.9:g.(?_164998693)_(173563182_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053917.5, VCV000060045.1 | 1 |