Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4436271

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,668,328

Description:Single allele AND Neurodevelopmental disorder

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: 3750 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):33,562,266-35,230,593

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4436271	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	33,562,266	35,230,593
nsv4436271	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	31,889,285	33,557,612

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15755158	deletion	Multiple	Multiple	Neurodevelopmental Disorders; Neurodevelopmental disorder	Uncertain significance	ClinVar	RCV000787392.2, VCV000635886.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15755158	Remapped	Perfect	NC_000017.11:g.335 62266_35230593del	GRCh38.p12	First Pass	NC_000017.11	Chr17	33,562,266	35,230,593
nssv15755158	Submitted genomic		NC_000017.10:g.318 89285_33557612del	GRCh37 (hg19)		NC_000017.10	Chr17	31,889,285	33,557,612

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
nssv15755158	GRCh37: NC_000017.10:g.31889285_33557612del	deletion	germline	Neurodevelopmental Disorders; Neurodevelopmental disorder	Uncertain significance	ClinVar	RCV000787392.2, VCV000635886.2

No genotype data were submitted for this variant

You are here: NCBI