nsv4456766
- 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:39,806
- Description:GRCh37/hg19 13q34(chr13:111344288-111384093)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: 224 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 34 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4456766 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 110,691,941 | 110,731,746 |
nsv4456766 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 111,344,288 | 111,384,093 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774473 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000845961.2, VCV000685253.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774473 | Remapped | Perfect | NC_000013.11:g.(?_ 110691941)_(110731 746_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 110,691,941 | 110,731,746 |
nssv15774473 | Submitted genomic | NC_000013.10:g.(?_ 111344288)_(111384 093_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 111,344,288 | 111,384,093 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15774473 | GRCh37: NC_000013.10:g.(?_111344288)_(111384093_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000845961.2, VCV000685253.2 | 3 |