nsv3887001
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:70,232
- Description:GRCh37/hg19 1q21.3(chr1:150455813-150526044)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 342 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 350 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3887001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 150,483,337 | 150,553,568 |
nsv3887001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 150,455,813 | 150,526,044 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15169923 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000749185.2, VCV000612549.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15169923 | Remapped | Perfect | NC_000001.11:g.(?_ 150483337)_(150553 568_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 150,483,337 | 150,553,568 |
nssv15169923 | Submitted genomic | NC_000001.10:g.(?_ 150455813)_(150526 044_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 150,455,813 | 150,526,044 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15169923 | GRCh37: NC_000001.10:g.(?_150455813)_(150526044_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000749185.2, VCV000612549.2 | 1 |