nsv3906606
- 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:35,845
- Description:GRCh37/hg19 11q22.1(chr11:101401444-101437288)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: 296 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3906606 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 101,530,713 | 101,566,557 |
nsv3906606 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 101,401,444 | 101,437,288 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15159339 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737651.2, VCV000601015.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15159339 | Remapped | Perfect | NC_000011.10:g.(?_ 101530713)_(101566 557_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 101,530,713 | 101,566,557 |
nssv15159339 | Submitted genomic | NC_000011.9:g.(?_1 01401444)_(1014372 88_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 101,401,444 | 101,437,288 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15159339 | GRCh37: NC_000011.9:g.(?_101401444)_(101437288_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000737651.2, VCV000601015.2 | 3 |