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dbVar

Database of genomic structural variation

nsv3885847

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:390,563

Description:GRCh37/hg19 4q31.3(chr4:151678774-152069336)x3 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: 1418 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):150,757,622-151,148,184

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3885847	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	150,757,622	151,148,184
nsv3885847	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	151,678,774	152,069,336

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140553	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000446436.3, VCV000395370.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140553	Remapped	Perfect	NC_000004.12:g.(?_ 150757622)_(151148 184_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,757,622	151,148,184
nssv15140553	Submitted genomic		NC_000004.11:g.(?_ 151678774)_(152069 336_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	151,678,774	152,069,336

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
nssv15140553	GRCh37: NC_000004.11:g.(?_151678774)_(152069336_?)dup	copy number gain	not provided	See cases	Likely benign	ClinVar	RCV000446436.3, VCV000395370.3	3

No genotype data were submitted for this variant

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