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dbVar

Database of genomic structural variation

nsv6112768

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:11,420,350

Description:GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 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: 29342 SVs from 123 studies. See in: genome view

Remapped(Score: Perfect):34,984,591-46,404,940

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112768	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	34,984,591	46,404,940
nsv6112768	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	34,984,696	46,405,042

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649860	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537930.4, VCV001180548.4	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649860	Remapped	Perfect	NC_000005.10:g.349 84591_46404940dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	34,984,591	46,404,940
nssv17649860	Submitted genomic		NC_000005.9:g.3498 4696_46405042dup	GRCh37 (hg19)		NC_000005.9	Chr5	34,984,696	46,405,042

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
nssv17649860	GRCh37: NC_000005.9:g.34984696_46405042dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV001537930.4, VCV001180548.4	3

No genotype data were submitted for this variant

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