nsv3874393
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:19,130
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015, Mintz et al. 2021
- ClinVar: RCV000161498.1
- ClinVar: RCV000161499.1
- ClinVar: RCV000161500.1
- ClinVar: RCV000161502.1
- ClinVar: VCV000157072.1
- HP: 0001518
- HP: 0100602
- MONDO: 0005081
- MedGen: C0032914
- MedGen: C0232989
- MedGen: C0235991
- MedGen: C3532257
- OMIM: 189800
- OMIM: PS189800
- PubMed: 25666259
- PubMed: 33514815
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1303 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1243 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3874393 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 142,074,490 | 142,093,619 |
| nsv3874393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 141,774,290 | 141,793,419 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123114 | deletion | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161499.1, VCV000157072.1 |
| nssv15123115 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161500.1, VCV000157072.1 |
| nssv15123563 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161502.1, VCV000157072.1 |
| nssv15123832 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161498.1, VCV000157072.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123114 | Submitted genomic | NC_000007.14:g.142 074490_142093619de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 142,074,490 | 142,093,619 |
| nssv15123115 | Submitted genomic | NC_000007.14:g.142 074490_142093619de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 142,074,490 | 142,093,619 |
| nssv15123563 | Submitted genomic | NC_000007.14:g.142 074490_142093619de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 142,074,490 | 142,093,619 |
| nssv15123832 | Submitted genomic | NC_000007.14:g.142 074490_142093619de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 142,074,490 | 142,093,619 |
| nssv15123114 | Submitted genomic | NC_000007.13:g.141 774290_141793419de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,774,290 | 141,793,419 |
| nssv15123115 | Submitted genomic | NC_000007.13:g.141 774290_141793419de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,774,290 | 141,793,419 |
| nssv15123563 | Submitted genomic | NC_000007.13:g.141 774290_141793419de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,774,290 | 141,793,419 |
| nssv15123832 | Submitted genomic | NC_000007.13:g.141 774290_141793419de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,774,290 | 141,793,419 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123114 | GRCh37: NC_000007.13:g.141774290_141793419del, GRCh38: NC_000007.14:g.142074490_142093619del | deletion | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161499.1, VCV000157072.1 |
| nssv15123115 | GRCh37: NC_000007.13:g.141774290_141793419del, GRCh38: NC_000007.14:g.142074490_142093619del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161500.1, VCV000157072.1 |
| nssv15123563 | GRCh37: NC_000007.13:g.141774290_141793419del, GRCh38: NC_000007.14:g.142074490_142093619del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161502.1, VCV000157072.1 |
| nssv15123832 | GRCh37: NC_000007.13:g.141774290_141793419del, GRCh38: NC_000007.14:g.142074490_142093619del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161498.1, VCV000157072.1 |