nsv3893453
- 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:108,117
- Description:GRCh38/hg38 2q32.1-32.2(chr2:188489709-188597825)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: 272 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893453 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 188,489,709 | 188,597,825 |
| nsv3893453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 189,354,436 | 189,462,552 |
| nsv3893453 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 189,062,681 | 189,170,797 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133738 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135832.4, VCV000146567.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133738 | Submitted genomic | NC_000002.12:g.(?_ 188489709)_(188597 825_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 188,489,709 | 188,597,825 |
| nssv15133738 | Submitted genomic | NC_000002.11:g.(?_ 189354436)_(189462 552_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 189,354,436 | 189,462,552 |
| nssv15133738 | Submitted genomic | NC_000002.10:g.(?_ 189062681)_(189170 797_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 189,062,681 | 189,170,797 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133738 | GRCh37: NC_000002.11:g.(?_189354436)_(189462552_?)del, GRCh38: NC_000002.12:g.(?_188489709)_(188597825_?)del, NCBI36: NC_000002.10:g.(?_189062681)_(189170797_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000135832.4, VCV000146567.2 | 1 |