nsv3910101
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:26,197,222
- Description:NCBI36/hg18 11q14.2-23.2(chr11:87819065-113972549)x1 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: 67889 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 67856 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 18164 SVs from 38 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3910101 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 88,423,395 | 88,423,395 | 114,620,616 | 114,620,616 |
nsv3910101 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 88,156,563 | 88,156,563 | 114,491,338 | 114,491,338 |
nsv3910101 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 87,796,211 | 87,819,065 | 113,972,549 | 113,996,548 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15125487 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000450472.2, VCV000398937.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15125487 | Remapped | Good | NC_000011.10:g.(88 423395_88423395)_( 114620616_11462061 6)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 88,423,395 | 88,423,395 | 114,620,616 | 114,620,616 |
nssv15125487 | Remapped | Good | NC_000011.9:g.(881 56563_88156563)_(1 14491338_114491338 )del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 88,156,563 | 88,156,563 | 114,491,338 | 114,491,338 |
nssv15125487 | Submitted genomic | NC_000011.8:g.(877 96211_87819065)_(1 13972549_113996548 )del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 87,796,211 | 87,819,065 | 113,972,549 | 113,996,548 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15125487 | NCBI36: NC_000011.8:g.(87796211_87819065)_(113972549_113996548)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000450472.2, VCV000398937.2 | 1 |