nsv4675982
- 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:301,587
- Description:GRCh37/hg19 5q35.3(chr5:180277974-180579560)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: 2089 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2089 SVs from 107 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4675982 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,850,974 | 181,152,560 |
nsv4675982 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,277,974 | 180,579,560 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16206796 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005752.2, VCV000814765.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16206796 | Remapped | Perfect | NC_000005.10:g.(?_ 180850974)_(181152 560_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,850,974 | 181,152,560 |
nssv16206796 | Submitted genomic | NC_000005.9:g.(?_1 80277974)_(1805795 60_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,277,974 | 180,579,560 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16206796 | GRCh37: NC_000005.9:g.(?_180277974)_(180579560_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005752.2, VCV000814765.2 | 3 |