nsv6291366
- 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:230,669
- Description:GRCh37/hg19 10q21.3(chr10:68295495-68526163)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: 2061 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2061 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6291366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,535,737 | 66,766,405 |
nsv6291366 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,295,495 | 68,526,163 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv17957344 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV001825181.1, VCV001339798.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17957344 | Remapped | Perfect | NC_000010.11:g.(?_ 66535737)_(6676640 5_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,535,737 | 66,766,405 |
nssv17957344 | Submitted genomic | NC_000010.10:g.(?_ 68295495)_(6852616 3_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,295,495 | 68,526,163 |
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 |
---|---|---|---|---|---|---|---|---|
nssv17957344 | GRCh37: NC_000010.10:g.(?_68295495)_(68526163_?)del | copy number loss | maternal | not provided | not provided | ClinVar | RCV001825181.1, VCV001339798.1 | 1 |