nsv3893680
- 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:7,229,429
- Description:GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)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: 26801 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 26753 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 6590 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893680 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 234,835,780 | 242,065,208 |
| nsv3893680 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 235,744,424 | 243,007,359 |
| nsv3893680 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 235,409,163 | 242,656,032 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134903 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137069.5, VCV000147967.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134903 | Submitted genomic | NC_000002.12:g.(?_ 234835780)_(242065 208_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 234,835,780 | 242,065,208 |
| nssv15134903 | Submitted genomic | NC_000002.11:g.(?_ 235744424)_(243007 359_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 235,744,424 | 243,007,359 |
| nssv15134903 | Submitted genomic | NC_000002.10:g.(?_ 235409163)_(242656 032_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 235,409,163 | 242,656,032 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134903 | GRCh37: NC_000002.11:g.(?_235744424)_(243007359_?)del, GRCh38: NC_000002.12:g.(?_234835780)_(242065208_?)del, NCBI36: NC_000002.10:g.(?_235409163)_(242656032_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137069.5, VCV000147967.2 | 1 |