nsv7098899
- 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:9,610,911
- Description:GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 25035 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 25040 SVs from 120 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv7098899 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 95,023,173 | 95,023,173 | 104,634,083 | 104,634,083 |
nsv7098899 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 95,675,427 | 95,700,999 | 105,271,065 | 105,286,434 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18792746 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003159553.1, VCV002446726.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv18792746 | Remapped | Good | NC_000013.11:g.(95 023173_95023173)_( 104634083_10463408 3)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 95,023,173 | 95,023,173 | 104,634,083 | 104,634,083 |
nssv18792746 | Submitted genomic | NC_000013.10:g.(95 675427_95700999)_( 105271065_10528643 4)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 95,675,427 | 95,700,999 | 105,271,065 | 105,286,434 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18792746 | GRCh37: NC_000013.10:g.(95675427_95700999)_(105271065_105286434)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV003159553.1, VCV002446726.1 | 3 |