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dbVar

Database of genomic structural variation

nsv3882035

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:95,710

Description:GRCh37/hg19 4q22.2(chr4:93978239-94073948)x0 AND See cases

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: 376 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):93,057,088-93,152,797

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3882035	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	93,057,088	93,152,797
nsv3882035	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	93,978,239	94,073,948

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142413	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510536.2, VCV000442959.2	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142413	Remapped	Perfect	NC_000004.12:g.(?_ 93057088)_(9315279 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	93,057,088	93,152,797
nssv15142413	Submitted genomic		NC_000004.11:g.(?_ 93978239)_(9407394 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	93,978,239	94,073,948

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
nssv15142413	GRCh37: NC_000004.11:g.(?_93978239)_(94073948_?)del	copy number loss	biparental	See cases	Pathogenic	ClinVar	RCV000510536.2, VCV000442959.2	0

No genotype data were submitted for this variant

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