nsv3917738
- 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:36,001
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015, Mintz et al. 2021
- ClinVar: RCV000161596.1
- ClinVar: RCV000161597.1
- ClinVar: RCV000161599.1
- ClinVar: RCV000225157.1
- ClinVar: VCV000221734.1
- HP: 0001518
- HP: 0001520
- MONDO: 0005387
- MedGen: C0085215
- MedGen: C0232989
- MedGen: C0235991
- MedGen: C1848395
- OMIM: 311360
- OMIM: PS311360
- 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: 495 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3917738 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 66,318,723 | 66,354,723 |
| nsv3917738 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,078,481 | 68,114,481 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15123136 | copy number loss | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161597.1, VCV000221734.1 | 1 |
| nssv15123586 | copy number loss | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161599.1, VCV000221734.1 | 1 |
| nssv15123871 | copy number loss | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161596.1, VCV000221734.1 | 1 |
| nssv15125210 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225157.1, VCV000221734.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123136 | Submitted genomic | NC_000010.11:g.663 18723_66354723del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 66,318,723 | 66,354,723 |
| nssv15123586 | Submitted genomic | NC_000010.11:g.663 18723_66354723del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 66,318,723 | 66,354,723 |
| nssv15123871 | Submitted genomic | NC_000010.11:g.663 18723_66354723del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 66,318,723 | 66,354,723 |
| nssv15125210 | Submitted genomic | NC_000010.11:g.663 18723_66354723del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 66,318,723 | 66,354,723 |
| nssv15123136 | Submitted genomic | NC_000010.10:g.680 78481_68114481del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,078,481 | 68,114,481 |
| nssv15123586 | Submitted genomic | NC_000010.10:g.680 78481_68114481del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,078,481 | 68,114,481 |
| nssv15123871 | Submitted genomic | NC_000010.10:g.680 78481_68114481del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,078,481 | 68,114,481 |
| nssv15125210 | Submitted genomic | NC_000010.10:g.680 78481_68114481del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,078,481 | 68,114,481 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15123136 | GRCh37: NC_000010.10:g.68078481_68114481del, GRCh38: NC_000010.11:g.66318723_66354723del | copy number loss | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161597.1, VCV000221734.1 | 1 |
| nssv15123586 | GRCh37: NC_000010.10:g.68078481_68114481del, GRCh38: NC_000010.11:g.66318723_66354723del | copy number loss | unknown | Normal pregnancy | not provided | ClinVar | RCV000161599.1, VCV000221734.1 | 1 |
| nssv15123871 | GRCh37: NC_000010.10:g.68078481_68114481del, GRCh38: NC_000010.11:g.66318723_66354723del | copy number loss | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161596.1, VCV000221734.1 | 1 |
| nssv15125210 | GRCh37: NC_000010.10:g.68078481_68114481del, GRCh38: NC_000010.11:g.66318723_66354723del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225157.1, VCV000221734.1 | 1 |