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dbVar

Database of genomic structural variation

nsv4684176

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:2,343,776

Description:
Single allele AND Chromosome 4q21 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: 6711 SVs from 101 studies. See in: genome view

Remapped(Score: Perfect):82,275,778-84,619,553

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4684176	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	82,275,778	84,619,553
nsv4684176	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	83,196,931	85,540,706

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16215158	deletion	Multiple	Multiple	4q21 microdeletion syndrome; CHROMOSOME 4q21 DELETION SYNDROME; Chromosome 4q21 deletion syndrome	Pathogenic	ClinVar	RCV001172266.1, VCV000830313.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16215158	Remapped	Perfect	NC_000004.12:g.822 75778_84619553del	GRCh38.p12	First Pass	NC_000004.12	Chr4	82,275,778	84,619,553
nssv16215158	Submitted genomic		NC_000004.11:g.831 96931_85540706del	GRCh37 (hg19)		NC_000004.11	Chr4	83,196,931	85,540,706

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	Copy number
nssv16215158	GRCh37: NC_000004.11:g.83196931_85540706del	deletion	de novo	4q21 microdeletion syndrome; CHROMOSOME 4q21 DELETION SYNDROME; Chromosome 4q21 deletion syndrome	Pathogenic	ClinVar	RCV001172266.1, VCV000830313.1	1

No genotype data were submitted for this variant

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