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

dbVar

Database of genomic structural variation

nsv4436202

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:135,447,352

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: 334609 SVs from 148 studies. See in: genome view

Remapped(Score: Good):14,685,028-150,132,379

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4436202	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	14,685,028	150,132,379
nsv4436202	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	14,685,137	149,511,942

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15755807	deletion	Multiple	Multiple	Neurodevelopmental Disorders; Neurodevelopmental disorder	Uncertain significance	ClinVar	RCV000787436.2, VCV000635930.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15755807	Remapped	Good	NC_000005.10:g.146 85028_150132379del	GRCh38.p12	First Pass	NC_000005.10	Chr5	14,685,028	150,132,379
nssv15755807	Submitted genomic		NC_000005.9:g.1468 5137_149511942del	GRCh37 (hg19)		NC_000005.9	Chr5	14,685,137	149,511,942

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
nssv15755807	GRCh37: NC_000005.9:g.14685137_149511942del	deletion	germline	Neurodevelopmental Disorders; Neurodevelopmental disorder	Uncertain significance	ClinVar	RCV000787436.2, VCV000635930.2

No genotype data were submitted for this variant

You are here: NCBI