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dbVar

Database of genomic structural variation

nsv4685736

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:65,662

Description:GRCh37/hg19 8q22.2(chr8:100479441-100545102) 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: 267 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):99,467,213-99,532,874

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4685736	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	99,467,213	99,532,874
nsv4685736	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	100,479,441	100,545,102

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216502	copy number loss	Multiple	Multiple	COHEN SYNDROME; COH1; Cohen Syndrome; Cohen syndrome; Cohen syndrome	Pathogenic	ClinVar	RCV001195122.1, VCV000915969.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16216502	Remapped	Perfect	NC_000008.11:g.(?_ 99467213)_(9953287 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,467,213	99,532,874
nssv16216502	Submitted genomic		NC_000008.10:g.(?_ 100479441)_(100545 102_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	100,479,441	100,545,102

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
nssv16216502	GRCh37: NC_000008.10:g.(?_100479441)_(100545102_?)del	copy number loss	inherited	COHEN SYNDROME; COH1; Cohen Syndrome; Cohen syndrome; Cohen syndrome	Pathogenic	ClinVar	RCV001195122.1, VCV000915969.1

No genotype data were submitted for this variant

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