nsv3879123
- 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:50,855
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 784 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 784 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 |
|---|---|---|---|---|---|---|---|
| nsv3879123 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 97,712,762 | 97,763,616 |
| nsv3879123 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 97,048,466 | 97,099,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122400 | deletion | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161408.1, VCV000156982.1 | 1 |
| nssv15122593 | deletion | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225312.1, VCV000156982.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122400 | Submitted genomic | NC_000005.10:g.977 12762_97763616del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 97,712,762 | 97,763,616 |
| nssv15122593 | Submitted genomic | NC_000005.10:g.977 12762_97763616del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 97,712,762 | 97,763,616 |
| nssv15122400 | Submitted genomic | NC_000005.9:g.9704 8466_97099320del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,048,466 | 97,099,320 |
| nssv15122593 | Submitted genomic | NC_000005.9:g.9704 8466_97099320del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,048,466 | 97,099,320 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122400 | GRCh37: NC_000005.9:g.97048466_97099320del, GRCh38: NC_000005.10:g.97712762_97763616del | deletion | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161408.1, VCV000156982.1 | 1 |
| nssv15122593 | GRCh37: NC_000005.9:g.97048466_97099320del, GRCh38: NC_000005.10:g.97712762_97763616del | deletion | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225312.1, VCV000156982.1 | 1 |