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dbVar

Database of genomic structural variation

nsv3921545

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:12,039,774

Description:NCBI36/hg18 8p12-q11.1(chr8:33992067-43661127)x3 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: 27852 SVs from 124 studies. See in: genome view

Remapped(Score: Pass):33,987,547-46,027,320

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
nsv3921545	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	33,987,547	33,987,547	46,027,320	46,027,320
nsv3921545	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	33,845,065	33,845,065	46,938,942	46,938,942
nsv3921545	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	33,964,607	33,992,067	43,661,127	47,058,107

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128918	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452709.2, VCV000400756.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128918	Remapped	Pass	NC_000008.11:g.(33 987547_33987547)_( 46027320_46027320) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	33,987,547	33,987,547	46,027,320	46,027,320
nssv15128918	Remapped	Good	NC_000008.10:g.(33 845065_33845065)_( 46938942_46938942) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	33,845,065	33,845,065	46,938,942	46,938,942
nssv15128918	Submitted genomic		NC_000008.9:g.(339 64607_33992067)_(4 3661127_47058107)d up	NCBI36 (hg18)		NC_000008.9	Chr8	33,964,607	33,992,067	43,661,127	47,058,107

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
nssv15128918	NCBI36: NC_000008.9:g.(33964607_33992067)_(43661127_47058107)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000452709.2, VCV000400756.2	3

No genotype data were submitted for this variant

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