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dbVar

Database of genomic structural variation

nsv3894662

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:24,295

Description:GRCh37/hg19 6q23.3(chr6:135711485-135735779)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: 136 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):135,390,347-135,414,641

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3894662	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	135,390,347	135,414,641
nsv3894662	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	135,711,485	135,735,779

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774884	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000846529.2, VCV000685821.2	1
nssv15776630	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000849703.2, VCV000689012.2	1
nssv15776636	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000849713.2, VCV000689022.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774884	Remapped	Perfect	NC_000006.12:g.(?_ 135390347)_(135414 641_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,390,347	135,414,641
nssv15776630	Remapped	Perfect	NC_000006.12:g.(?_ 135390347)_(135414 641_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,390,347	135,414,641
nssv15776636	Remapped	Perfect	NC_000006.12:g.(?_ 135390347)_(135414 641_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,390,347	135,414,641
nssv15774884	Submitted genomic		NC_000006.11:g.(?_ 135711485)_(135735 779_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,711,485	135,735,779
nssv15776630	Submitted genomic		NC_000006.11:g.(?_ 135711485)_(135735 779_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,711,485	135,735,779
nssv15776636	Submitted genomic		NC_000006.11:g.(?_ 135711485)_(135735 779_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,711,485	135,735,779

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774884	GRCh37: NC_000006.11:g.(?_135711485)_(135735779_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000846529.2, VCV000685821.2	1
nssv15776630	GRCh37: NC_000006.11:g.(?_135711485)_(135735779_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000849703.2, VCV000689012.2	1
nssv15776636	GRCh37: NC_000006.11:g.(?_135711485)_(135735779_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000849713.2, VCV000689022.2	1

No genotype data were submitted for this variant

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