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dbVar

Database of genomic structural variation

nsv4684060

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:81

Description:
See descriptions for individual calls in download files

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: 157 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):74,777,267-74,777,347

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4684060	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	74,777,267	74,777,347
nsv4684060	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	74,191,613	74,191,693

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16215037	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001090292.11, VCV000870704.16	3
nssv16215081	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001092784.10, VCV000872359.15	0
nssv17649978	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001531698.9, VCV001176255.10	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16215037	Remapped	Perfect	NC_000007.14:g.(?_ 74777267)_(7477734 7_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	74,777,267	74,777,347
nssv16215081	Remapped	Perfect	NC_000007.14:g.(?_ 74777267)_(7477734 7_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	74,777,267	74,777,347
nssv17649978	Remapped	Perfect	NC_000007.14:g.(?_ 74777267)_(7477734 7_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	74,777,267	74,777,347
nssv16215037	Submitted genomic		NC_000007.13:g.(?_ 74191613)_(7419169 3_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	74,191,613	74,191,693
nssv16215081	Submitted genomic		NC_000007.13:g.(?_ 74191613)_(7419169 3_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	74,191,613	74,191,693
nssv17649978	Submitted genomic		NC_000007.13:g.(?_ 74191613)_(7419169 3_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	74,191,613	74,191,693

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
nssv16215037	GRCh37: NC_000007.13:g.(?_74191613)_(74191693_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV001090292.11, VCV000870704.16	3
nssv16215081	GRCh37: NC_000007.13:g.(?_74191613)_(74191693_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001092784.10, VCV000872359.15	0
nssv17649978	GRCh37: NC_000007.13:g.(?_74191613)_(74191693_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001531698.9, VCV001176255.10	1

No genotype data were submitted for this variant

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