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dbVar

Database of genomic structural variation

nsv5673239

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:4,520

Description:NC_000001.10:g.(?_100472580)_(100477099_?)del AND Autism spectrum disorder - epilepsy - arthrogryposis syndrome

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: 121 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):100,007,024-100,011,543

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673239	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	100,007,024	100,011,543
nsv5673239	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	100,472,580	100,477,099

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172788	deletion	Multiple	Multiple	ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Pathogenic	ClinVar	RCV001384236.2, VCV001071714.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172788	Remapped	Perfect	NC_000001.11:g.(?_ 100007024)_(100011 543_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	100,007,024	100,011,543
nssv17172788	Submitted genomic		NC_000001.10:g.(?_ 100472580)_(100477 099_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	100,472,580	100,477,099

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
nssv17172788	GRCh37: NC_000001.10:g.(?_100472580)_(100477099_?)del	deletion	germline	ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Pathogenic	ClinVar	RCV001384236.2, VCV001071714.2

No genotype data were submitted for this variant

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