nsv6636494
- 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:234,393
- Description:GRCh37/hg19 2p16.1(chr2:55393367-55627759)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: 858 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 858 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636494 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 55,166,231 | 55,400,623 |
| nsv6636494 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 55,393,367 | 55,627,759 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329660 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472882.1, VCV001808076.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329660 | Remapped | Perfect | NC_000002.12:g.(?_ 55166231)_(5540062 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 55,166,231 | 55,400,623 |
| nssv18329660 | Submitted genomic | NC_000002.11:g.(?_ 55393367)_(5562775 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 55,393,367 | 55,627,759 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329660 | GRCh37: NC_000002.11:g.(?_55393367)_(55627759_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472882.1, VCV001808076.1 | 3 |