nsv3893159
- 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:1,756,795
- Description:GRCh38/hg38 2q22.3(chr2:144434699-146191493)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: 3972 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3973 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1146 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893159 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 144,434,699 | 146,191,493 |
| nsv3893159 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 145,192,266 | 146,949,061 |
| nsv3893159 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 144,908,736 | 146,665,531 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131833 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133652.4, VCV000144170.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131833 | Submitted genomic | NC_000002.12:g.(?_ 144434699)_(146191 493_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 144,434,699 | 146,191,493 |
| nssv15131833 | Submitted genomic | NC_000002.11:g.(?_ 145192266)_(146949 061_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 145,192,266 | 146,949,061 |
| nssv15131833 | Submitted genomic | NC_000002.10:g.(?_ 144908736)_(146665 531_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 144,908,736 | 146,665,531 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131833 | GRCh37: NC_000002.11:g.(?_145192266)_(146949061_?)del, GRCh38: NC_000002.12:g.(?_144434699)_(146191493_?)del, NCBI36: NC_000002.10:g.(?_144908736)_(146665531_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133652.4, VCV000144170.2 | 1 |