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dbVar

Database of genomic structural variation

nsv7098865

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:4,310,561

Description:NC_000010.11:g.45704708_(49974954_50015268)del
AND 10q11.22q11.23 deletion syndrome

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: 12317 SVs from 133 studies. See in: genome view

Submitted genomic45,704,708-50,015,268

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Inner Stop	Outer Stop
nsv7098865	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	45,704,708	49,974,954	50,015,268
nsv7098865	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	46,200,156	51,028,871	-
nsv7098865	Remapped	Pass	GRCh37.p13	PATCHES	First Pass	NW_003871068.1	Chr10\|NW_0 03871068.1	1	2,281,126	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792766	deletion	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV003221322.2, VCV002498203.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Inner Stop	Outer Stop
nssv18792766	Submitted genomic		NC_000010.11:g.457 04708_(49974954_50 015268)del	GRCh38 (hg38)		NC_000010.11	Chr10	45,704,708	49,974,954	50,015,268
nssv18792766	Remapped	Pass	NW_003871068.1:g.1 _(2281126_?)del	GRCh37.p13	First Pass	NW_003871068.1	Chr10\|NW_0 03871068.1	1	2,281,126	-
nssv18792766	Remapped	Pass	NC_000010.10:g.462 00156_(51028871_?) del	GRCh37.p13	First Pass	NC_000010.10	Chr10	46,200,156	51,028,871	-

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
nssv18792766	GRCh38: NC_000010.11:g.45704708_(49974954_50015268)del	deletion	germline	See cases	Likely pathogenic	ClinVar	RCV003221322.2, VCV002498203.1

No genotype data were submitted for this variant

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