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dbVar

Database of genomic structural variation

nsv7148134

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:2,381,110

Description:GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1 AND CHARGE association
Publication(s):Blake et al. 2011, Lalani et al. 2006, Schaefer et al. 2013

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: 5778 SVs from 105 studies. See in: genome view

Remapped(Score: Perfect):60,208,735-62,589,844

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7148134	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	60,208,735	62,589,844
nsv7148134	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	61,121,294	63,502,403

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842066	copy number loss	Multiple	Multiple	CHARGE SYNDROME; CHARGE association; CHARGE syndrome; CHD7 Disorder	Pathogenic	ClinVar	RCV003329548.1, VCV002580343.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18842066	Remapped	Perfect	NC_000008.11:g.(?_ 60208735)_(6258984 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	60,208,735	62,589,844
nssv18842066	Submitted genomic		NC_000008.10:g.(?_ 61121294)_(6350240 3_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	61,121,294	63,502,403

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
nssv18842066	GRCh37: NC_000008.10:g.(?_61121294)_(63502403_?)del	copy number loss	de novo	CHARGE SYNDROME; CHARGE association; CHARGE syndrome; CHD7 Disorder	Pathogenic	ClinVar	RCV003329548.1, VCV002580343.1	1

No genotype data were submitted for this variant

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