Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7097681

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:556,832

Description:NC_000009.11:g.(?_113006437)_(113563268_?)dup AND multiple conditions
Publication(s):Abicht et al. 2003

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: 1997 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):110,244,157-110,800,988

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097681	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	110,244,157	110,800,988
nsv7097681	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	113,006,437	113,563,268

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790559	duplication	Multiple	Multiple	Congenital myasthenic syndrome; FETAL AKINESIA DEFORMATION SEQUENCE; FADS; Fetal akinesia deformation sequence; Fetal akinesia sequence; MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I	Uncertain significance	ClinVar	RCV003116395.2, VCV002425380.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790559	Remapped	Perfect	NC_000009.12:g.(?_ 110244157)_(110800 988_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	110,244,157	110,800,988
nssv18790559	Submitted genomic		NC_000009.11:g.(?_ 113006437)_(113563 268_?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	113,006,437	113,563,268

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
nssv18790559	GRCh37: NC_000009.11:g.(?_113006437)_(113563268_?)dup	duplication	germline	Congenital myasthenic syndrome; FETAL AKINESIA DEFORMATION SEQUENCE; FADS; Fetal akinesia deformation sequence; Fetal akinesia sequence; MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I	Uncertain significance	ClinVar	RCV003116395.2, VCV002425380.2

No genotype data were submitted for this variant

You are here: NCBI