nsv3882021
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,941
- 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: 877 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 877 SVs from 81 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv3882021 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 69,080,331 | 69,088,271 |
nsv3882021 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 66,747,568 | 66,755,508 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15123630 | deletion | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161847.1, VCV000157420.1 |
nssv15123974 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161846.1, VCV000157420.1 |
nssv15123975 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161848.1, VCV000157420.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15123630 | Submitted genomic | NC_000018.10:g.690 80331_69088271del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 69,080,331 | 69,088,271 |
nssv15123974 | Submitted genomic | NC_000018.10:g.690 80331_69088271del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 69,080,331 | 69,088,271 |
nssv15123975 | Submitted genomic | NC_000018.10:g.690 80331_69088271del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 69,080,331 | 69,088,271 |
nssv15123630 | Submitted genomic | NC_000018.9:g.6674 7568_66755508del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 66,747,568 | 66,755,508 |
nssv15123974 | Submitted genomic | NC_000018.9:g.6674 7568_66755508del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 66,747,568 | 66,755,508 |
nssv15123975 | Submitted genomic | NC_000018.9:g.6674 7568_66755508del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 66,747,568 | 66,755,508 |
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 |
---|---|---|---|---|---|---|---|
nssv15123630 | GRCh37: NC_000018.9:g.66747568_66755508del, GRCh38: NC_000018.10:g.69080331_69088271del | deletion | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161847.1, VCV000157420.1 |
nssv15123974 | GRCh37: NC_000018.9:g.66747568_66755508del, GRCh38: NC_000018.10:g.69080331_69088271del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161846.1, VCV000157420.1 |
nssv15123975 | GRCh37: NC_000018.9:g.66747568_66755508del, GRCh38: NC_000018.10:g.69080331_69088271del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161848.1, VCV000157420.1 |