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dbVar

Database of genomic structural variation

nsv3919070

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:3,996,473

Description:NCBI36/hg18 8q11.23-12.1(chr8:54588524-58529527)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: 10166 SVs from 122 studies. See in: genome view

Remapped(Score: Perfect):53,494,541-57,491,013

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
nsv3919070	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	53,494,541	53,494,541	57,491,013	57,491,013
nsv3919070	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	54,407,101	54,407,101	58,403,572	58,403,572
nsv3919070	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	54,569,654	54,588,524	58,529,527	58,566,126

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125104	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000449742.2, VCV000397951.2	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
nssv15125104	Remapped	Perfect	NC_000008.11:g.(53 494541_53494541)_( 57491013_57491013) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	53,494,541	53,494,541	57,491,013	57,491,013
nssv15125104	Remapped	Perfect	NC_000008.10:g.(54 407101_54407101)_( 58403572_58403572) del	GRCh37.p13	First Pass	NC_000008.10	Chr8	54,407,101	54,407,101	58,403,572	58,403,572
nssv15125104	Submitted genomic		NC_000008.9:g.(545 69654_54588524)_(5 8529527_58566126)d el	NCBI36 (hg18)		NC_000008.9	Chr8	54,569,654	54,588,524	58,529,527	58,566,126

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
nssv15125104	NCBI36: NC_000008.9:g.(54569654_54588524)_(58529527_58566126)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000449742.2, VCV000397951.2	1

No genotype data were submitted for this variant

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