nsv4451769
- 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:8,071,817
- Description:GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1 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: 20152 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 20152 SVs from 123 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4451769 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 74,744,953 | 82,816,769 |
nsv4451769 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 74,972,080 | 83,043,893 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772092 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846568.2, VCV000685860.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772092 | Remapped | Perfect | NC_000002.12:g.(?_ 74744953)_(8281676 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 74,744,953 | 82,816,769 |
nssv15772092 | Submitted genomic | NC_000002.11:g.(?_ 74972080)_(8304389 3_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 74,972,080 | 83,043,893 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15772092 | GRCh37: NC_000002.11:g.(?_74972080)_(83043893_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846568.2, VCV000685860.2 | 1 |