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dbVar

Database of genomic structural variation

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

Links to Other Resources

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: 104 SVs from 24 studies. See in: genome view

Submitted genomic33,550,230-33,554,244

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

No genotype data were submitted for this variant

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