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dbVar

Database of genomic structural variation

nsv6638064

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,142,609

Description:GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2 AND Orofacial cleft 13

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: 8589 SVs from 100 studies. See in: genome view

Submitted genomic48,666,286-52,808,894

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
nsv6638064	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	48,666,286	50,441,439	50,959,811	52,808,894
nsv6638064	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	49,131,958	50,907,111	51,425,483	53,274,566

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329415	copy number loss	Multiple	Multiple	OROFACIAL CLEFT 13; OFC13; Orofacial cleft 13	association	ClinVar	RCV002488680.1, VCV001809606.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18329415	Submitted genomic		NC_000001.11:g.(48 666286_50441439)_( 50959811_52808894) del	GRCh38 (hg38)		NC_000001.11	Chr1	48,666,286	50,441,439	50,959,811	52,808,894
nssv18329415	Remapped	Perfect	NC_000001.10:g.(49 131958_50907111)_( 51425483_53274566) del	GRCh37.p13	First Pass	NC_000001.10	Chr1	49,131,958	50,907,111	51,425,483	53,274,566

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
nssv18329415	GRCh38: NC_000001.11:g.(48666286_50441439)_(50959811_52808894)del	copy number loss	unknown	OROFACIAL CLEFT 13; OFC13; Orofacial cleft 13	association	ClinVar	RCV002488680.1, VCV001809606.1	2

No genotype data were submitted for this variant

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