nsv3879331
- 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:426,157
- Description:GRCh37/hg19 1p34.1(chr1:45819489-46245645)x3 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: 1771 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1771 SVs from 84 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3879331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 45,353,817 | 45,779,973 |
nsv3879331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,819,489 | 46,245,645 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15171069 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000748974.2, VCV000612338.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15171069 | Remapped | Perfect | NC_000001.11:g.(?_ 45353817)_(4577997 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 45,353,817 | 45,779,973 |
nssv15171069 | Submitted genomic | NC_000001.10:g.(?_ 45819489)_(4624564 5_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,819,489 | 46,245,645 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15171069 | GRCh37: NC_000001.10:g.(?_45819489)_(46245645_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000748974.2, VCV000612338.2 | 3 |