nsv6634381
- 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:725,105
- Description:GRCh37/hg19 2p13.2(chr2:72622191-72939279)x1 AND Isolated anorectal malformation
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1370 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1370 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6634381 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 72,305,075 | 72,395,062 | 72,712,150 | 73,030,179 |
nsv6634381 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 72,532,204 | 72,622,191 | 72,939,279 | 73,257,308 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18326291 | copy number loss | Multiple | Multiple | Isolated anorectal malformation | association | ClinVar | RCV002286612.1, VCV001707632.1 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv18326291 | Remapped | Perfect | NC_000002.12:g.(72 305075_72395062)_( 72712150_73030179) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 72,305,075 | 72,395,062 | 72,712,150 | 73,030,179 |
nssv18326291 | Submitted genomic | NC_000002.11:g.(72 532204_72622191)_( 72939279_73257308) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 72,532,204 | 72,622,191 | 72,939,279 | 73,257,308 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18326291 | GRCh37: NC_000002.11:g.(72532204_72622191)_(72939279_73257308)del | copy number loss | maternal | Isolated anorectal malformation | association | ClinVar | RCV002286612.1, VCV001707632.1 | 1 |