nsv3895364
- 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:229,523
- Description:GRCh37/hg19 10q21.3(chr10:70102749-70332271)x3 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: 1096 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1096 SVs from 64 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3895364 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 68,342,992 | 68,572,514 |
nsv3895364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 70,102,749 | 70,332,271 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15157745 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737177.2, VCV000600541.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15157745 | Remapped | Perfect | NC_000010.11:g.(?_ 68342992)_(6857251 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 68,342,992 | 68,572,514 |
nssv15157745 | Submitted genomic | NC_000010.10:g.(?_ 70102749)_(7033227 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 70,102,749 | 70,332,271 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15157745 | GRCh37: NC_000010.10:g.(?_70102749)_(70332271_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000737177.2, VCV000600541.2 | 3 |