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dbVar

Database of genomic structural variation

nsv6634436

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:1,563,096

Description:GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1 AND Syndromic 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: 3431 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):50,055,281-51,618,376

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
nsv6634436	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	50,055,281	50,059,780	51,617,543	51,618,376
nsv6634436	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	50,089,192	50,093,691	51,651,454	51,652,287

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326389	copy number loss	Multiple	Multiple	Syndromic anorectal malformation	association	ClinVar	RCV002286604.1, VCV001707624.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326389	Remapped	Perfect	NC_000016.10:g.(50 055281_50059780)_( 51617543_51618376) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	50,055,281	50,059,780	51,617,543	51,618,376
nssv18326389	Submitted genomic		NC_000016.9:g.(500 89192_50093691)_(5 1651454_51652287)d el	GRCh37 (hg19)		NC_000016.9	Chr16	50,089,192	50,093,691	51,651,454	51,652,287

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
nssv18326389	GRCh37: NC_000016.9:g.(50089192_50093691)_(51651454_51652287)del	copy number loss	de novo	Syndromic anorectal malformation	association	ClinVar	RCV002286604.1, VCV001707624.1	1

No genotype data were submitted for this variant

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