nsv3881488
- 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:159,535
- Description:GRCh37/hg19 6p22.1(chr6:27713299-27872832)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: 569 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 569 SVs from 57 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3881488 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 27,745,520 | 27,905,054 |
nsv3881488 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 27,713,299 | 27,872,832 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15166319 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000745582.2, VCV000608946.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15166319 | Remapped | Good | NC_000006.12:g.(?_ 27745520)_(2790505 4_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 27,745,520 | 27,905,054 |
nssv15166319 | Submitted genomic | NC_000006.11:g.(?_ 27713299)_(2787283 2_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 27,713,299 | 27,872,832 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15166319 | GRCh37: NC_000006.11:g.(?_27713299)_(27872832_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000745582.2, VCV000608946.2 | 3 |