nsv3899054
- 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:7,327,568
- Description:GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)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: 30995 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 30992 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 7654 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899054 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 844,347 | 8,171,914 |
| nsv3899054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 779,727 | 8,231,974 |
| nsv3899054 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 769,590 | 8,154,561 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145833 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136554.5, VCV000147354.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145833 | Submitted genomic | NC_000001.11:g.(?_ 844347)_(8171914_? )del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 844,347 | 8,171,914 |
| nssv15145833 | Submitted genomic | NC_000001.10:g.(?_ 779727)_(8231974_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 779,727 | 8,231,974 |
| nssv15145833 | Submitted genomic | NC_000001.9:g.(?_7 69590)_(8154561_?) del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 769,590 | 8,154,561 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145833 | GRCh37: NC_000001.10:g.(?_779727)_(8231974_?)del, GRCh38: NC_000001.11:g.(?_844347)_(8171914_?)del, NCBI36: NC_000001.9:g.(?_769590)_(8154561_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136554.5, VCV000147354.2 | 1 |