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dbVar

Database of genomic structural variation

nsv6314844

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,159,661

Description:Single allele 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: 6043 SVs from 96 studies. See in: genome view

Submitted genomic32,213,458-34,373,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6314844	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	32,213,458	34,373,118
nsv6314844	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	33,585,770	35,745,417

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976289	deletion	Multiple	Multiple	ZTTK SYNDROME; ZTTKS; ZTTK syndrome	Pathogenic	ClinVar	RCV002247722.4, VCV001684637.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17976289	Submitted genomic		NC_000021.9:g.3221 3458_34373118del	GRCh38 (hg38)		NC_000021.9	Chr21	32,213,458	34,373,118
nssv17976289	Remapped	Good	NC_000021.8:g.3358 5770_35745417del	GRCh37.p13	First Pass	NC_000021.8	Chr21	33,585,770	35,745,417

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
nssv17976289	GRCh38: NC_000021.9:g.32213458_34373118del	deletion	germline	ZTTK SYNDROME; ZTTKS; ZTTK syndrome	Pathogenic	ClinVar	RCV002247722.4, VCV001684637.2

No genotype data were submitted for this variant

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