nsv3888702
- 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:467,698
- Description:GRCh37/hg19 6p22.2(chr6:25851789-26319486)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: 1219 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1219 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888702 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 25,851,561 | 26,319,258 |
| nsv3888702 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 25,851,789 | 26,319,486 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152924 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000682656.1, VCV000563167.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152924 | Remapped | Perfect | NC_000006.12:g.(?_ 25851561)_(2631925 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 25,851,561 | 26,319,258 |
| nssv15152924 | Submitted genomic | NC_000006.11:g.(?_ 25851789)_(2631948 6_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 25,851,789 | 26,319,486 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152924 | GRCh37: NC_000006.11:g.(?_25851789)_(26319486_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV000682656.1, VCV000563167.1 | 3 |