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dbVar

Database of genomic structural variation

nsv6634378

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:449,922

Description:GRCh37/hg19 2p13.2(chr2:72725367-73118547)x3 AND Isolated anorectal malformation

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: 947 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):72,452,924-72,902,845

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6634378	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	72,452,924	72,498,238	72,891,418	72,902,845
nsv6634378	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	72,680,053	72,725,367	73,118,547	73,129,974

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326292	copy number gain	Multiple	Multiple	Isolated anorectal malformation	association	ClinVar	RCV002286613.1, VCV001707633.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326292	Remapped	Perfect	NC_000002.12:g.(72 452924_72498238)_( 72891418_72902845) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,452,924	72,498,238	72,891,418	72,902,845
nssv18326292	Submitted genomic		NC_000002.11:g.(72 680053_72725367)_( 73118547_73129974) dup	GRCh37 (hg19)		NC_000002.11	Chr2	72,680,053	72,725,367	73,118,547	73,129,974

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
nssv18326292	GRCh37: NC_000002.11:g.(72680053_72725367)_(73118547_73129974)dup	copy number gain	maternal	Isolated anorectal malformation	association	ClinVar	RCV002286613.1, VCV001707633.1	3

No genotype data were submitted for this variant

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