nsv4456701
- 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:92,537
- Description:GRCh37/hg19 11p14.1-13(chr11:30956147-31048683)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: 256 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4456701 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 30,934,600 | 31,027,136 |
nsv4456701 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 30,956,147 | 31,048,683 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774382 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000845834.2, VCV000685126.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774382 | Remapped | Perfect | NC_000011.10:g.(?_ 30934600)_(3102713 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 30,934,600 | 31,027,136 |
nssv15774382 | Submitted genomic | NC_000011.9:g.(?_3 0956147)_(31048683 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 30,956,147 | 31,048,683 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15774382 | GRCh37: NC_000011.9:g.(?_30956147)_(31048683_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000845834.2, VCV000685126.2 | 3 |