nsv7098801
- 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:6,550
- Description:NC_000010.11:g.68413754_68420303del AND Rothmund-Thomson syndrome
- Publication(s):No authors et al. 2021, No authors et al. 2021, Wang et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 93 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7098801 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 68,413,707 | 68,420,256 |
| nsv7098801 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 70,173,464 | 70,180,013 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792653 | deletion | Multiple | Multiple | Rothmund-Thomson Syndrome; Rothmund-Thomson syndrome; Rothmund-Thomson syndrome; Rothmund-Thomson syndrome | Pathogenic | ClinVar | RCV003154244.1, VCV001710084.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18792653 | Submitted genomic | NC_000010.11:g.684 13707_68420256del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 68,413,707 | 68,420,256 |
| nssv18792653 | Submitted genomic | NC_000010.10:g.701 73464_70180013del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 70,173,464 | 70,180,013 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792653 | GRCh37: NC_000010.10:g.70173464_70180013del, GRCh38: NC_000010.11:g.68413707_68420256del | deletion | paternal | Rothmund-Thomson Syndrome; Rothmund-Thomson syndrome; Rothmund-Thomson syndrome; Rothmund-Thomson syndrome | Pathogenic | ClinVar | RCV003154244.1, VCV001710084.1 |