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

dbVar

Database of genomic structural variation

nsv5980419

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:184,563

Description:
Single allele AND Chromosome 16q22 deletion 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: 392 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):67,594,943-67,779,505

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5980419	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	67,594,943	67,779,505
nsv5980419	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	67,628,846	67,813,408

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17517463	deletion	Multiple	Multiple	CHROMOSOME 16q22 DELETION SYNDROME; chromosome 16q22 deletion syndrome	Pathogenic	ClinVar	RCV001523792.1, VCV000992641.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17517463	Remapped	Perfect	NC_000016.10:g.675 94943_67779505del	GRCh38.p12	First Pass	NC_000016.10	Chr16	67,594,943	67,779,505
nssv17517463	Submitted genomic		NC_000016.9:g.6762 8846_67813408del	GRCh37 (hg19)		NC_000016.9	Chr16	67,628,846	67,813,408

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
nssv17517463	GRCh37: NC_000016.9:g.67628846_67813408del	deletion	de novo	CHROMOSOME 16q22 DELETION SYNDROME; chromosome 16q22 deletion syndrome	Pathogenic	ClinVar	RCV001523792.1, VCV000992641.1

No genotype data were submitted for this variant

You are here: NCBI