nsv6636875
- 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:2,575,551
- Description:GRCh37/hg19 2q11.2-12.1(chr2:102443532-105019078)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: 5075 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 5075 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636875 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 101,827,070 | 104,402,620 |
| nsv6636875 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 102,443,532 | 105,019,078 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329152 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475606.1, VCV001809233.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329152 | Remapped | Perfect | NC_000002.12:g.(?_ 101827070)_(104402 620_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 101,827,070 | 104,402,620 |
| nssv18329152 | Submitted genomic | NC_000002.11:g.(?_ 102443532)_(105019 078_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 102,443,532 | 105,019,078 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329152 | GRCh37: NC_000002.11:g.(?_102443532)_(105019078_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002475606.1, VCV001809233.1 | 1 |