nsv5059960
- 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:4,015
- Description:NM_138927.4(SON):c.1002_5016del (p.Glu335fs) AND ZTTK syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 104 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv5059960 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 33,550,230 | 33,554,244 |
nsv5059960 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 34,922,536 | 34,926,550 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15159811 | deletion | Multiple | Multiple | ZTTK SYNDROME; ZTTKS; ZTTK syndrome | Likely pathogenic | ClinVar | RCV000755178.1, VCV000617862.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15159811 | Submitted genomic | NC_000021.9:g.3355 0230_33554244del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 33,550,230 | 33,554,244 |
nssv15159811 | Submitted genomic | NC_000021.8:g.3492 2536_34926550del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 34,922,536 | 34,926,550 |
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 |
---|---|---|---|---|---|---|---|
nssv15159811 | GRCh37: NC_000021.8:g.34922536_34926550del, GRCh38: NC_000021.9:g.33550230_33554244del | deletion | unknown | ZTTK SYNDROME; ZTTKS; ZTTK syndrome | Likely pathogenic | ClinVar | RCV000755178.1, VCV000617862.1 |