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dbVar

Database of genomic structural variation

nsv3916221

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:2,042,882

Description:NCBI36/hg18 7q21.3(chr7:92781094-94775842)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: 4493 SVs from 108 studies. See in: genome view

Remapped(Score: Perfect):93,287,240-95,330,121

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
nsv3916221	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	93,287,240	93,313,846	95,308,594	95,330,121
nsv3916221	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	92,916,552	92,943,158	94,937,906	94,959,433
nsv3916221	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	92,754,488	92,781,094	94,775,842	94,797,369

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128924	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452720.2, VCV000398466.2	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
nssv15128924	Remapped	Perfect	NC_000007.14:g.(93 287240_93313846)_( 95308594_95330121) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	93,287,240	93,313,846	95,308,594	95,330,121
nssv15128924	Remapped	Perfect	NC_000007.13:g.(92 916552_92943158)_( 94937906_94959433) del	GRCh37.p13	First Pass	NC_000007.13	Chr7	92,916,552	92,943,158	94,937,906	94,959,433
nssv15128924	Submitted genomic		NC_000007.12:g.(92 754488_92781094)_( 94775842_94797369) del	NCBI36 (hg18)		NC_000007.12	Chr7	92,754,488	92,781,094	94,775,842	94,797,369

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
nssv15128924	NCBI36: NC_000007.12:g.(92754488_92781094)_(94775842_94797369)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000452720.2, VCV000398466.2	1

No genotype data were submitted for this variant

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