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dbVar

Database of genomic structural variation

nsv3924660

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,164,487

Description:NCBI36/hg18 7q11.23(chr7:74997129-76093800)x1 AND See cases

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: 5036 SVs from 121 studies. See in: genome view

Remapped(Score: Good):75,502,515-76,667,001

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
nsv3924660	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	75,502,515	75,502,515	76,667,001	76,667,001
nsv3924660	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	75,131,839	75,159,193	76,255,864	76,296,318
nsv3924660	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	3,031,751	3,031,751	3,821,770	-
nsv3924660	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	74,969,775	74,997,129	76,093,800	76,134,254

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128951	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453561.2, VCV000398109.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128951	Remapped	Good	NC_000007.14:g.(75 502515_75502515)_( 76667001_76667001) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	75,502,515	75,502,515	76,667,001	76,667,001
nssv15128951	Remapped	Pass	NW_003871064.1:g.( 3031751_3031751)_( 3821770_?)del	GRCh37.p13	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	3,031,751	3,031,751	3,821,770	-
nssv15128951	Remapped	Perfect	NC_000007.13:g.(75 131839_75159193)_( 76255864_76296318) del	GRCh37.p13	First Pass	NC_000007.13	Chr7	75,131,839	75,159,193	76,255,864	76,296,318
nssv15128951	Submitted genomic		NC_000007.12:g.(74 969775_74997129)_( 76093800_76134254) del	NCBI36 (hg18)		NC_000007.12	Chr7	74,969,775	74,997,129	76,093,800	76,134,254

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
nssv15128951	NCBI36: NC_000007.12:g.(74969775_74997129)_(76093800_76134254)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000453561.2, VCV000398109.2	1

No genotype data were submitted for this variant

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