nsv3876752
- 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:14,475
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015, Mintz et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 181 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3876752 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 82,184,949 | 82,199,423 |
| nsv3876752 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 83,944,705 | 83,959,179 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123138 | deletion | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161606.1, VCV000157180.1 |
| nssv15123590 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161607.1, VCV000157180.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123138 | Submitted genomic | NC_000010.11:g.821 84949_82199423del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 82,184,949 | 82,199,423 |
| nssv15123590 | Submitted genomic | NC_000010.11:g.821 84949_82199423del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 82,184,949 | 82,199,423 |
| nssv15123138 | Submitted genomic | NC_000010.10:g.839 44705_83959179del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 83,944,705 | 83,959,179 |
| nssv15123590 | Submitted genomic | NC_000010.10:g.839 44705_83959179del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 83,944,705 | 83,959,179 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123138 | GRCh37: NC_000010.10:g.83944705_83959179del, GRCh38: NC_000010.11:g.82184949_82199423del | deletion | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161606.1, VCV000157180.1 |
| nssv15123590 | GRCh37: NC_000010.10:g.83944705_83959179del, GRCh38: NC_000010.11:g.82184949_82199423del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161607.1, VCV000157180.1 |