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dbVar

Database of genomic structural variation

nsv6638068

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:20,507,089

Description:GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 AND Orofacial cleft 2

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: 48581 SVs from 132 studies. See in: genome view

Submitted genomic208,430,918-228,938,006

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
nsv6638068	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	208,430,918	228,006,998	228,061,271	228,938,006
nsv6638068	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	208,604,263	208,604,263	229,073,753	229,073,753

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329414	copy number loss	Multiple	Multiple	OROFACIAL CLEFT 2; OFC2; Orofacial Cleft 2; Orofacial cleft 2	association	ClinVar	RCV002481175.1, VCV001809607.1	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
nssv18329414	Submitted genomic		NC_000001.11:g.(20 8430918_228006998) _(228061271_228938 006)del	GRCh38 (hg38)		NC_000001.11	Chr1	208,430,918	228,006,998	228,061,271	228,938,006
nssv18329414	Remapped	Good	NC_000001.10:g.(20 8604263_208604263) _(229073753_229073 753)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	208,604,263	208,604,263	229,073,753	229,073,753

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
nssv18329414	GRCh38: NC_000001.11:g.(208430918_228006998)_(228061271_228938006)del	copy number loss	unknown	OROFACIAL CLEFT 2; OFC2; Orofacial Cleft 2; Orofacial cleft 2	association	ClinVar	RCV002481175.1, VCV001809607.1	2

No genotype data were submitted for this variant

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