nsv4674129
- 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:110,175
- Description:GRCh37/hg19 2p16.1(chr2:55365531-55475705)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: 368 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 368 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674129 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 55,138,395 | 55,248,569 |
| nsv4674129 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 55,365,531 | 55,475,705 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207815 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005276.3, VCV000814264.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207815 | Remapped | Perfect | NC_000002.12:g.(?_ 55138395)_(5524856 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 55,138,395 | 55,248,569 |
| nssv16207815 | Submitted genomic | NC_000002.11:g.(?_ 55365531)_(5547570 5_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 55,365,531 | 55,475,705 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207815 | GRCh37: NC_000002.11:g.(?_55365531)_(55475705_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001005276.3, VCV000814264.3 | 1 |