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dbVar

Database of genomic structural variation

nsv6310660

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:225

Description:NC_000001.10:g.(?_100459083)_(100459307_?)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: 120 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):99,993,527-99,993,751

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310660	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	99,993,527	99,993,751
nsv6310660	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	100,459,083	100,459,307

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968964	deletion	Multiple	Multiple	ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Pathogenic	ClinVar	RCV001982875.3, VCV001459700.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968964	Remapped	Perfect	NC_000001.11:g.(?_ 99993527)_(9999375 1_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	99,993,527	99,993,751
nssv17968964	Submitted genomic		NC_000001.10:g.(?_ 100459083)_(100459 307_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	100,459,083	100,459,307

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
nssv17968964	GRCh37: NC_000001.10:g.(?_100459083)_(100459307_?)del	deletion	germline	ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Pathogenic	ClinVar	RCV001982875.3, VCV001459700.3

No genotype data were submitted for this variant

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