nsv4454237
- 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:801,786
- Description:GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4 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: 2033 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2033 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4454237 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 31,673,462 | 32,475,247 |
nsv4454237 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 32,139,063 | 32,940,848 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775016 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846712.2, VCV000686004.2 | 4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775016 | Remapped | Perfect | NC_000001.11:g.(?_ 31673462)_(3247524 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 31,673,462 | 32,475,247 |
nssv15775016 | Submitted genomic | NC_000001.10:g.(?_ 32139063)_(3294084 8_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 32,139,063 | 32,940,848 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775016 | GRCh37: NC_000001.10:g.(?_32139063)_(32940848_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846712.2, VCV000686004.2 | 4 |