nsv6637048
- 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:445,975
- Description:GRCh37/hg19 2p14(chr2:65110275-65556249)x1 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: 1576 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1576 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637048 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 64,883,141 | 65,329,115 |
| nsv6637048 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 65,110,275 | 65,556,249 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330526 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474786.1, VCV001808941.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330526 | Remapped | Perfect | NC_000002.12:g.(?_ 64883141)_(6532911 5_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 64,883,141 | 65,329,115 |
| nssv18330526 | Submitted genomic | NC_000002.11:g.(?_ 65110275)_(6555624 9_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 65,110,275 | 65,556,249 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330526 | GRCh37: NC_000002.11:g.(?_65110275)_(65556249_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002474786.1, VCV001808941.1 | 1 |