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dbVar

Database of genomic structural variation

nsv6634471

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:904,559

Description:GRCh37/hg19 18q23(chr18:76498136-77400047)x1 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: 6090 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):78,736,620-79,641,178

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
nsv6634471	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	78,736,620	78,738,136	79,640,047	79,641,178
nsv6634471	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	76,496,620	76,498,136	77,400,047	77,401,178

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326390	copy number loss	Multiple	Multiple	Isolated anorectal malformation	association	ClinVar	RCV002286605.1, VCV001707625.1	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
nssv18326390	Remapped	Perfect	NC_000018.10:g.(78 736620_78738136)_( 79640047_79641178) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,736,620	78,738,136	79,640,047	79,641,178
nssv18326390	Submitted genomic		NC_000018.9:g.(764 96620_76498136)_(7 7400047_77401178)d el	GRCh37 (hg19)		NC_000018.9	Chr18	76,496,620	76,498,136	77,400,047	77,401,178

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
nssv18326390	GRCh37: NC_000018.9:g.(76496620_76498136)_(77400047_77401178)del	copy number loss	de novo	Isolated anorectal malformation	association	ClinVar	RCV002286605.1, VCV001707625.1	1

No genotype data were submitted for this variant

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