nsv3877010
- 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:22,195
- 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: 361 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 361 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3877010 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 9,902,291 | 9,924,485 |
| nsv3877010 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 9,902,403 | 9,924,597 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122851 | deletion | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161392.1, VCV000156966.1 |
| nssv15122852 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161393.1, VCV000156966.1 |
| nssv15122853 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161394.1, VCV000156966.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122851 | Submitted genomic | NC_000005.10:g.990 2291_9924485del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 9,902,291 | 9,924,485 |
| nssv15122852 | Submitted genomic | NC_000005.10:g.990 2291_9924485del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 9,902,291 | 9,924,485 |
| nssv15122853 | Submitted genomic | NC_000005.10:g.990 2291_9924485del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 9,902,291 | 9,924,485 |
| nssv15122851 | Submitted genomic | NC_000005.9:g.9902 403_9924597del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 9,902,403 | 9,924,597 |
| nssv15122852 | Submitted genomic | NC_000005.9:g.9902 403_9924597del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 9,902,403 | 9,924,597 |
| nssv15122853 | Submitted genomic | NC_000005.9:g.9902 403_9924597del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 9,902,403 | 9,924,597 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122851 | GRCh37: NC_000005.9:g.9902403_9924597del, GRCh38: NC_000005.10:g.9902291_9924485del | deletion | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161392.1, VCV000156966.1 |
| nssv15122852 | GRCh37: NC_000005.9:g.9902403_9924597del, GRCh38: NC_000005.10:g.9902291_9924485del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161393.1, VCV000156966.1 |
| nssv15122853 | GRCh37: NC_000005.9:g.9902403_9924597del, GRCh38: NC_000005.10:g.9902291_9924485del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161394.1, VCV000156966.1 |