nsv3880487
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:60,297
- Description:
CM000664.1:g.123818296_123878592dup AND Normal pregnancy - Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 299 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3880487 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 123,060,720 | 123,121,016 |
| nsv3880487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 123,818,296 | 123,878,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15148300 | duplication | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161229.1, VCV000156803.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15148300 | Submitted genomic | NC_000002.12:g.123 060720_123121016du p | GRCh38 (hg38) | NC_000002.12 | Chr2 | 123,060,720 | 123,121,016 |
| nssv15148300 | Submitted genomic | NC_000002.11:g.123 818296_123878592du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 123,818,296 | 123,878,592 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15148300 | GRCh37: NC_000002.11:g.123818296_123878592dup, GRCh38: NC_000002.12:g.123060720_123121016dup | duplication | unknown | Normal pregnancy | not provided | ClinVar | RCV000161229.1, VCV000156803.1 |