nsv6637545
- 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:367,398
- Description:GRCh37/hg19 11q13.4(chr11:71777538-72144933)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: 931 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 931 SVs from 72 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6637545 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 72,066,492 | 72,433,889 |
nsv6637545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 71,777,538 | 72,144,933 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18329647 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472869.1, VCV001808063.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18329647 | Remapped | Good | NC_000011.10:g.(?_ 72066492)_(7243388 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 72,066,492 | 72,433,889 |
nssv18329647 | Submitted genomic | NC_000011.9:g.(?_7 1777538)_(72144933 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 71,777,538 | 72,144,933 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18329647 | GRCh37: NC_000011.9:g.(?_71777538)_(72144933_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472869.1, VCV001808063.1 | 3 |