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dbVar

Database of genomic structural variation

nsv6312665

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:7,680,201

Description:NC_000008.10:g.(?_99135566)_(106815766_?)dup AND Cohen syndrome
Publication(s):Wang et al. 2006

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: 18238 SVs from 120 studies. See in: genome view

Remapped(Score: Perfect):98,123,338-105,803,538

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312665	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	98,123,338	105,803,538
nsv6312665	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	99,135,566	106,815,766

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973049	duplication	Multiple	Multiple	COHEN SYNDROME; COH1; Cohen Syndrome; Cohen syndrome; Cohen syndrome	Uncertain significance	ClinVar	RCV001997398.3, VCV001449127.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973049	Remapped	Perfect	NC_000008.11:g.(?_ 98123338)_(1058035 38_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	98,123,338	105,803,538
nssv17973049	Submitted genomic		NC_000008.10:g.(?_ 99135566)_(1068157 66_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	99,135,566	106,815,766

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
nssv17973049	GRCh37: NC_000008.10:g.(?_99135566)_(106815766_?)dup	duplication	germline	COHEN SYNDROME; COH1; Cohen Syndrome; Cohen syndrome; Cohen syndrome	Uncertain significance	ClinVar	RCV001997398.3, VCV001449127.3

No genotype data were submitted for this variant

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