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dbVar

Database of genomic structural variation

nsv4456572

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:9,701

Description:GRCh37/hg19 6q23.3(chr6:135721284-135730984)x1 AND not provided

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: 108 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):135,400,146-135,409,846

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4456572	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	135,400,146	135,409,846
nsv4456572	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	135,721,284	135,730,984

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15772892	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848546.2, VCV000687855.2	1
nssv15776067	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848545.2, VCV000687854.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15772892	Remapped	Perfect	NC_000006.12:g.(?_ 135400146)_(135409 846_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,400,146	135,409,846
nssv15776067	Remapped	Perfect	NC_000006.12:g.(?_ 135400146)_(135409 846_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,400,146	135,409,846
nssv15772892	Submitted genomic		NC_000006.11:g.(?_ 135721284)_(135730 984_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,721,284	135,730,984
nssv15776067	Submitted genomic		NC_000006.11:g.(?_ 135721284)_(135730 984_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,721,284	135,730,984

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
nssv15772892	GRCh37: NC_000006.11:g.(?_135721284)_(135730984_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000848546.2, VCV000687855.2	1
nssv15776067	GRCh37: NC_000006.11:g.(?_135721284)_(135730984_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000848545.2, VCV000687854.2	1

No genotype data were submitted for this variant

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