nsv3908231
- 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:8,308,895
- Description:GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)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: 18993 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 18993 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 4937 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908231 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 195,660,594 | 203,969,488 |
| nsv3908231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 196,525,318 | 204,834,211 |
| nsv3908231 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 196,233,563 | 204,542,456 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148041 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135341.6, VCV000146015.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148041 | Submitted genomic | NC_000002.12:g.(?_ 195660594)_(203969 488_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 195,660,594 | 203,969,488 |
| nssv15148041 | Submitted genomic | NC_000002.11:g.(?_ 196525318)_(204834 211_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 196,525,318 | 204,834,211 |
| nssv15148041 | Submitted genomic | NC_000002.10:g.(?_ 196233563)_(204542 456_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 196,233,563 | 204,542,456 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148041 | GRCh37: NC_000002.11:g.(?_196525318)_(204834211_?)del, GRCh38: NC_000002.12:g.(?_195660594)_(203969488_?)del, NCBI36: NC_000002.10:g.(?_196233563)_(204542456_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135341.6, VCV000146015.3 | 1 |