nsv3907566
- 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:595,445
- Description:GRCh38/hg38 1q21.3(chr1:150989333-151584777)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: 1838 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1847 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907566 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 150,989,333 | 151,584,777 |
| nsv3907566 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 150,961,809 | 151,557,253 |
| nsv3907566 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 149,228,433 | 149,823,877 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136429 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000138949.4, VCV000150034.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136429 | Submitted genomic | NC_000001.11:g.(?_ 150989333)_(151584 777_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 150,989,333 | 151,584,777 |
| nssv15136429 | Submitted genomic | NC_000001.10:g.(?_ 150961809)_(151557 253_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 150,961,809 | 151,557,253 |
| nssv15136429 | Submitted genomic | NC_000001.9:g.(?_1 49228433)_(1498238 77_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 149,228,433 | 149,823,877 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136429 | GRCh37: NC_000001.10:g.(?_150961809)_(151557253_?)del, GRCh38: NC_000001.11:g.(?_150989333)_(151584777_?)del, NCBI36: NC_000001.9:g.(?_149228433)_(149823877_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000138949.4, VCV000150034.2 | 1 |