nsv3894385
- 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:15,782,207
- Description:GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)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: 37664 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 37698 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 10577 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3894385 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 170,407,688 | 186,189,894 |
| nsv3894385 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 171,264,198 | 187,054,621 |
| nsv3894385 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 170,972,444 | 186,762,866 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131793 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054127.5, VCV000060253.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131793 | Submitted genomic | NC_000002.12:g.(?_ 170407688)_(186189 894_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 170,407,688 | 186,189,894 |
| nssv15131793 | Submitted genomic | NC_000002.11:g.(?_ 171264198)_(187054 621_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 171,264,198 | 187,054,621 |
| nssv15131793 | Submitted genomic | NC_000002.10:g.(?_ 170972444)_(186762 866_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 170,972,444 | 186,762,866 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131793 | GRCh37: NC_000002.11:g.(?_171264198)_(187054621_?)del, GRCh38: NC_000002.12:g.(?_170407688)_(186189894_?)del, NCBI36: NC_000002.10:g.(?_170972444)_(186762866_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054127.5, VCV000060253.1 | 1 |