nsv4675453
- 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:361,086
- Description:GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)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: 1863 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1863 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,949,138 | 32,310,223 |
| nsv4675453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,916,915 | 32,278,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206815 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005792.1, VCV000814808.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206815 | Remapped | Perfect | NC_000006.12:g.(?_ 31949138)_(3231022 3_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,949,138 | 32,310,223 |
| nssv16206815 | Submitted genomic | NC_000006.11:g.(?_ 31916915)_(3227800 0_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,916,915 | 32,278,000 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206815 | GRCh37: NC_000006.11:g.(?_31916915)_(32278000_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005792.1, VCV000814808.1 | 3 |