nsv3884491
- 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:18,088
- Description:NM_152744.3(SDK1):c.299-49000_299-30913del 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: 346 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 346 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3884491 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 3,570,080 | 3,588,167 |
| nsv3884491 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 3,609,712 | 3,627,799 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122861 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161461.1, VCV000157035.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122861 | Submitted genomic | NC_000007.14:g.357 0080_3588167del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 3,570,080 | 3,588,167 |
| nssv15122861 | Submitted genomic | NC_000007.13:g.360 9712_3627799del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 3,609,712 | 3,627,799 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122861 | GRCh37: NC_000007.13:g.3609712_3627799del, GRCh38: NC_000007.14:g.3570080_3588167del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161461.1, VCV000157035.1 |