nsv3895160
- 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:322,803
- Description:
GRCh38/hg38 2p12(chr2:82373086-82695888)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: 739 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 739 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 123 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 |
|---|---|---|---|---|---|---|---|
| nsv3895160 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 82,373,086 | 82,695,888 |
| nsv3895160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 82,600,210 | 82,923,012 |
| nsv3895160 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 82,453,721 | 82,776,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121856 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000140133.3, VCV000151419.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121856 | Submitted genomic | NC_000002.12:g.(?_ 82373086)_(8269588 8_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 82,373,086 | 82,695,888 |
| nssv15121856 | Submitted genomic | NC_000002.11:g.(?_ 82600210)_(8292301 2_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 82,600,210 | 82,923,012 |
| nssv15121856 | Submitted genomic | NC_000002.10:g.(?_ 82453721)_(8277652 3_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 82,453,721 | 82,776,523 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121856 | GRCh37: NC_000002.11:g.(?_82600210)_(82923012_?)del, GRCh38: NC_000002.12:g.(?_82373086)_(82695888_?)del, NCBI36: NC_000002.10:g.(?_82453721)_(82776523_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000140133.3, VCV000151419.1 | 1 |