nsv3909287
- 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:52,151
- Description:GRCh37/hg19 7p21.3(chr7:12725406-12777556)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: 288 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3909287 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 12,685,781 | 12,737,931 |
nsv3909287 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 12,725,406 | 12,777,556 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15151464 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000682759.1, VCV000563270.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15151464 | Remapped | Perfect | NC_000007.14:g.(?_ 12685781)_(1273793 1_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 12,685,781 | 12,737,931 |
nssv15151464 | Submitted genomic | NC_000007.13:g.(?_ 12725406)_(1277755 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 12,725,406 | 12,777,556 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15151464 | GRCh37: NC_000007.13:g.(?_12725406)_(12777556_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV000682759.1, VCV000563270.1 | 1 |