nsv3908540
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,341,034
- Description:GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)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: 15221 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 15254 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 4393 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908540 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 171,513,047 | 177,854,080 |
| nsv3908540 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 172,369,557 | 178,718,807 |
| nsv3908540 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 172,077,803 | 178,427,053 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137588 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139646.5, VCV000150849.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137588 | Submitted genomic | NC_000002.12:g.(?_ 171513047)_(177854 080_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 171,513,047 | 177,854,080 |
| nssv15137588 | Submitted genomic | NC_000002.11:g.(?_ 172369557)_(178718 807_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 172,369,557 | 178,718,807 |
| nssv15137588 | Submitted genomic | NC_000002.10:g.(?_ 172077803)_(178427 053_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 172,077,803 | 178,427,053 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137588 | GRCh37: NC_000002.11:g.(?_172369557)_(178718807_?)del, GRCh38: NC_000002.12:g.(?_171513047)_(177854080_?)del, NCBI36: NC_000002.10:g.(?_172077803)_(178427053_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139646.5, VCV000150849.2 | 1 |