nsv3880755
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:27,585
- Description:
See descriptions for individual calls in download files - 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: 315 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3880755 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 17,386,271 | 17,413,855 |
| nsv3880755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 17,425,895 | 17,453,479 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122863 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161467.1, VCV000157041.1 |
| nssv15123557 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161468.1, VCV000157041.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122863 | Submitted genomic | NC_000007.14:g.173 86271_17413855del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 17,386,271 | 17,413,855 |
| nssv15123557 | Submitted genomic | NC_000007.14:g.173 86271_17413855del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 17,386,271 | 17,413,855 |
| nssv15122863 | Submitted genomic | NC_000007.13:g.174 25895_17453479del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 17,425,895 | 17,453,479 |
| nssv15123557 | Submitted genomic | NC_000007.13:g.174 25895_17453479del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 17,425,895 | 17,453,479 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122863 | GRCh37: NC_000007.13:g.17425895_17453479del, GRCh38: NC_000007.14:g.17386271_17413855del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161467.1, VCV000157041.1 |
| nssv15123557 | GRCh37: NC_000007.13:g.17425895_17453479del, GRCh38: NC_000007.14:g.17386271_17413855del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161468.1, VCV000157041.1 |