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dbVar

Database of genomic structural variation

nsv6312675

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:118,954

Description:NC_000009.11:g.(?_113431185)_(113550138_?)del 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: 563 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):110,668,905-110,787,858

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312675	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	110,668,905	110,787,858
nsv6312675	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	113,431,185	113,550,138

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971242	deletion	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	Pathogenic	ClinVar	RCV001951511.3, VCV001460264.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971242	Remapped	Perfect	NC_000009.12:g.(?_ 110668905)_(110787 858_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	110,668,905	110,787,858
nssv17971242	Submitted genomic		NC_000009.11:g.(?_ 113431185)_(113550 138_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	113,431,185	113,550,138

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
nssv17971242	GRCh37: NC_000009.11:g.(?_113431185)_(113550138_?)del	deletion	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	Pathogenic	ClinVar	RCV001951511.3, VCV001460264.4

No genotype data were submitted for this variant

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