nsv4684160
- 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:1,574,005
- Description:GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4219 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 4245 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684160 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 96,071,335 | 97,645,339 |
| nsv4684160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 96,737,083 | 98,261,802 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215221 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001194515.1, VCV000929311.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215221 | Remapped | Good | NC_000002.12:g.(?_ 96071335)_(9764533 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 96,071,335 | 97,645,339 |
| nssv16215221 | Submitted genomic | NC_000002.11:g.(?_ 96737083)_(9826180 2_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 96,737,083 | 98,261,802 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215221 | GRCh37: NC_000002.11:g.(?_96737083)_(98261802_?)del | copy number loss | paternal | See cases | Likely pathogenic | ClinVar | RCV001194515.1, VCV000929311.1 | 1 |