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dbVar

Database of genomic structural variation

nsv7148241

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:20,334,226

Description:GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 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: 52718 SVs from 134 studies. See in: genome view

Submitted genomic79,123,548-99,457,773

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148241	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	79,123,548	99,457,773
nsv7148241	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	80,044,702	100,378,930

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841931	copy number loss	Multiple	Multiple	4q21 microdeletion syndrome; CHROMOSOME 4q21 DELETION SYNDROME; Chromosome 4q21 deletion syndrome	Pathogenic	ClinVar	RCV003327709.1, VCV002579270.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841931	Submitted genomic		NC_000004.12:g.791 23548_99457773del	GRCh38 (hg38)		NC_000004.12	Chr4	79,123,548	99,457,773
nssv18841931	Remapped	Perfect	NC_000004.11:g.800 44702_100378930del	GRCh37.p13	First Pass	NC_000004.11	Chr4	80,044,702	100,378,930

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
nssv18841931	GRCh38: NC_000004.12:g.79123548_99457773del	copy number loss	unknown	4q21 microdeletion syndrome; CHROMOSOME 4q21 DELETION SYNDROME; Chromosome 4q21 deletion syndrome	Pathogenic	ClinVar	RCV003327709.1, VCV002579270.1	1

No genotype data were submitted for this variant

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