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dbVar

Database of genomic structural variation

nsv3912641

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:1,189,416

Description:NCBI36/hg18 7q11.23(chr7:74940296-76078704)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: 4982 SVs from 120 studies. See in: genome view

Remapped(Score: Good):75,437,073-76,626,488

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
nsv3912641	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	75,437,073	75,437,073	76,626,488	76,626,488
nsv3912641	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	75,066,351	75,102,360	76,240,768	76,255,805
nsv3912641	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	2,966,309	2,966,309	3,821,770	-
nsv3912641	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	74,904,287	74,940,296	76,078,704	76,093,741

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128270	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453243.2, VCV000401332.2	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
nssv15128270	Remapped	Good	NC_000007.14:g.(75 437073_75437073)_( 76626488_76626488) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	75,437,073	75,437,073	76,626,488	76,626,488
nssv15128270	Remapped	Pass	NW_003871064.1:g.( 2966309_2966309)_( 3821770_?)del	GRCh37.p13	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	2,966,309	2,966,309	3,821,770	-
nssv15128270	Remapped	Perfect	NC_000007.13:g.(75 066351_75102360)_( 76240768_76255805) del	GRCh37.p13	First Pass	NC_000007.13	Chr7	75,066,351	75,102,360	76,240,768	76,255,805
nssv15128270	Submitted genomic		NC_000007.12:g.(74 904287_74940296)_( 76078704_76093741) del	NCBI36 (hg18)		NC_000007.12	Chr7	74,904,287	74,940,296	76,078,704	76,093,741

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
nssv15128270	NCBI36: NC_000007.12:g.(74904287_74940296)_(76078704_76093741)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000453243.2, VCV000401332.2	1

No genotype data were submitted for this variant

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