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dbVar

Database of genomic structural variation

nsv4685759

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:88,922

Description:GRCh37/hg19 8q22.2(chr8:100067471-100156392) AND Cohen syndrome
Publication(s):Wang et al. 2006, Yuan et al. 2020

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: 394 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):99,055,243-99,144,164

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4685759	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	99,055,243	99,144,164
nsv4685759	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	100,067,471	100,156,392

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216503	copy number gain	Multiple	Multiple	COHEN SYNDROME; COH1; Cohen Syndrome; Cohen syndrome; Cohen syndrome	Pathogenic	ClinVar	RCV001195123.1, VCV000915970.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16216503	Remapped	Perfect	NC_000008.11:g.(?_ 99055243)_(9914416 4_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,055,243	99,144,164
nssv16216503	Submitted genomic		NC_000008.10:g.(?_ 100067471)_(100156 392_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	100,067,471	100,156,392

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
nssv16216503	GRCh37: NC_000008.10:g.(?_100067471)_(100156392_?)dup	copy number gain	inherited	COHEN SYNDROME; COH1; Cohen Syndrome; Cohen syndrome; Cohen syndrome	Pathogenic	ClinVar	RCV001195123.1, VCV000915970.1

No genotype data were submitted for this variant

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