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dbVar

Database of genomic structural variation

nsv4684021

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:43,036

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: 184 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):135,090,998-135,134,033

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4684021	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	135,090,998	135,134,033
nsv4684021	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	135,848,568	135,891,603

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16215045	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001091277.11, VCV000871364.16	3
nssv17649888	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001532446.9, VCV001176759.10	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16215045	Remapped	Perfect	NC_000002.12:g.(?_ 135090998)_(135134 033_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	135,090,998	135,134,033
nssv17649888	Remapped	Perfect	NC_000002.12:g.(?_ 135090998)_(135134 033_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	135,090,998	135,134,033
nssv16215045	Submitted genomic		NC_000002.11:g.(?_ 135848568)_(135891 603_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	135,848,568	135,891,603
nssv17649888	Submitted genomic		NC_000002.11:g.(?_ 135848568)_(135891 603_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	135,848,568	135,891,603

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
nssv16215045	GRCh37: NC_000002.11:g.(?_135848568)_(135891603_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV001091277.11, VCV000871364.16	3
nssv17649888	GRCh37: NC_000002.11:g.(?_135848568)_(135891603_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001532446.9, VCV001176759.10	1

No genotype data were submitted for this variant

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