nsv3887149
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:23,762
- Description:NC_000007.13:g.107262480_107286241del23762 AND Primary amenorrhea
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 144 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3887149 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 107,622,035 | 107,645,796 |
| nsv3887149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 107,262,480 | 107,286,241 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15145268 | deletion | Multiple | Multiple | Primary amenorrhea; Primary amenorrhea | Likely benign | ClinVar | RCV000754436.1, VCV000549614.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15145268 | Submitted genomic | NC_000007.14:g.107 622035_107645796de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,622,035 | 107,645,796 |
| nssv15145268 | Submitted genomic | NC_000007.13:g.107 262480_107286241de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 107,262,480 | 107,286,241 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15145268 | GRCh37: NC_000007.13:g.107262480_107286241del, GRCh38: NC_000007.14:g.107622035_107645796del | deletion | maternal | Primary amenorrhea; Primary amenorrhea | Likely benign | ClinVar | RCV000754436.1, VCV000549614.1 |