nsv3871156
- 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:23,000
- Description:GRCh37/hg19 2p22.2(chr2:38280021-38303019)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: 181 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3871156 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 38,052,878 | 38,075,877 |
nsv3871156 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 38,280,021 | 38,303,019 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15174688 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752905.2, VCV000616269.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15174688 | Remapped | Good | NC_000002.12:g.(?_ 38052878)_(3807587 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 38,052,878 | 38,075,877 |
nssv15174688 | Submitted genomic | NC_000002.11:g.(?_ 38280021)_(3830301 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 38,280,021 | 38,303,019 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15174688 | GRCh37: NC_000002.11:g.(?_38280021)_(38303019_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000752905.2, VCV000616269.2 | 3 |