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dbVar

Database of genomic structural variation

nsv6638066

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:5,248,921

Description:GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2 AND Orofacial cleft

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: 13578 SVs from 120 studies. See in: genome view

Submitted genomic53,151,508-58,400,428

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
nsv6638066	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	53,151,508	55,755,662	55,874,865	58,400,428
nsv6638066	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	53,016,306	53,016,306	58,726,706	58,726,706

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329407	copy number loss	Multiple	Multiple	Orofacial cleft; Orofacial cleft; Orofacial cleft	Uncertain significance	ClinVar	RCV002481089.3, VCV001809510.1	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
nssv18329407	Submitted genomic		NC_000006.12:g.(53 151508_55755662)_( 55874865_58400428) del	GRCh38 (hg38)		NC_000006.12	Chr6	53,151,508	55,755,662	55,874,865	58,400,428
nssv18329407	Remapped	Pass	NC_000006.11:g.(53 016306_53016306)_( 58726706_58726706) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	53,016,306	53,016,306	58,726,706	58,726,706

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
nssv18329407	GRCh38: NC_000006.12:g.(53151508_55755662)_(55874865_58400428)del	copy number loss	unknown	Orofacial cleft; Orofacial cleft; Orofacial cleft	Uncertain significance	ClinVar	RCV002481089.3, VCV001809510.1	2

No genotype data were submitted for this variant

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