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dbVar

Database of genomic structural variation

nsv3876391

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:376,553

Description:GRCh37/hg19 4q21.21(chr4:81186787-81563339)x1 AND not provided

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: 999 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):80,265,633-80,642,185

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3876391	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	80,265,633	80,642,185
nsv3876391	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	81,186,787	81,563,339

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15153606	copy number loss	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000682425.1, VCV000562936.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15153606	Remapped	Perfect	NC_000004.12:g.(?_ 80265633)_(8064218 5_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	80,265,633	80,642,185
nssv15153606	Submitted genomic		NC_000004.11:g.(?_ 81186787)_(8156333 9_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	81,186,787	81,563,339

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
nssv15153606	GRCh37: NC_000004.11:g.(?_81186787)_(81563339_?)del	copy number loss	germline	not provided	Likely benign	ClinVar	RCV000682425.1, VCV000562936.1	1

No genotype data were submitted for this variant

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