nsv3875020
- 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:73,110
- 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: 192 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv3875020 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 120,686,634 | 120,759,743 |
nsv3875020 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 120,557,343 | 120,630,452 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15123893 | deletion | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161654.1, VCV000157228.1 |
nssv15123894 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161655.1, VCV000157228.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15123893 | Submitted genomic | NC_000011.10:g.120 686634_120759743de l | GRCh38 (hg38) | NC_000011.10 | Chr11 | 120,686,634 | 120,759,743 |
nssv15123894 | Submitted genomic | NC_000011.10:g.120 686634_120759743de l | GRCh38 (hg38) | NC_000011.10 | Chr11 | 120,686,634 | 120,759,743 |
nssv15123893 | Submitted genomic | NC_000011.9:g.1205 57343_120630452del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 120,557,343 | 120,630,452 |
nssv15123894 | Submitted genomic | NC_000011.9:g.1205 57343_120630452del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 120,557,343 | 120,630,452 |
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 |
---|---|---|---|---|---|---|---|
nssv15123893 | GRCh37: NC_000011.9:g.120557343_120630452del, GRCh38: NC_000011.10:g.120686634_120759743del | deletion | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161654.1, VCV000157228.1 |
nssv15123894 | GRCh37: NC_000011.9:g.120557343_120630452del, GRCh38: NC_000011.10:g.120686634_120759743del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161655.1, VCV000157228.1 |