nsv4768307
- 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:19,033,346
- Description:GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 AND 2q24 microdeletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 44545 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 44578 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768307 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 162,221,545 | 181,254,890 |
| nsv4768307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 163,078,055 | 182,119,617 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296942 | copy number loss | Multiple | Multiple | 2q24 microdeletion syndrome | Pathogenic | ClinVar | RCV001263223.1, VCV000981210.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296942 | Remapped | Good | NC_000002.12:g.(?_ 162221545)_(181254 890_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 162,221,545 | 181,254,890 |
| nssv16296942 | Submitted genomic | NC_000002.11:g.(?_ 163078055)_(182119 617_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 163,078,055 | 182,119,617 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296942 | GRCh37: NC_000002.11:g.(?_163078055)_(182119617_?)del | copy number loss | germline | 2q24 microdeletion syndrome | Pathogenic | ClinVar | RCV001263223.1, VCV000981210.1 | 1 |