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dbVar

Database of genomic structural variation

nsv7093418

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:76,730

Description:GRCh38/hg38 12q14.3(chr12:65192310-65195529)x4 AND Orofacial cleft 3

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: 283 SVs from 47 studies. See in: genome view

Submitted genomic65,169,596-65,246,325

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
nsv7093418	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	65,169,596	65,192,310	65,195,529	65,246,325
nsv7093418	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	65,563,376	65,586,090	65,589,309	65,640,105

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18786314	copy number gain	Multiple	Multiple	OROFACIAL CLEFT 3; OFC3; Orofacial Cleft 3; Orofacial cleft 3	association	ClinVar	RCV002510246.1, VCV001810761.1	4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18786314	Submitted genomic		NC_000012.12:g.(65 169596_65192310)_( 65195529_65246325) dup	GRCh38 (hg38)		NC_000012.12	Chr12	65,169,596	65,192,310	65,195,529	65,246,325
nssv18786314	Remapped	Perfect	NC_000012.11:g.(65 563376_65586090)_( 65589309_65640105) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	65,563,376	65,586,090	65,589,309	65,640,105

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
nssv18786314	GRCh38: NC_000012.12:g.(65169596_65192310)_(65195529_65246325)dup	copy number gain	unknown	OROFACIAL CLEFT 3; OFC3; Orofacial Cleft 3; Orofacial cleft 3	association	ClinVar	RCV002510246.1, VCV001810761.1	4

No genotype data were submitted for this variant

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