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dbVar

Database of genomic structural variation

nsv6311248

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:6,773,731

Description:
See descriptions for individual calls in download files
Publication(s):Andersen et al. 2005, Andersen et al. 2007, EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis: et al. 2011, Kinsley et al. 2001, van Bon et al. 2015

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: 19072 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):31,066,952-37,840,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311248	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	31,066,952	37,840,682
nsv6311248	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	32,439,271	39,212,984

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970734	duplication	Multiple	Multiple	AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; Amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type 1	Uncertain significance	ClinVar	RCV001939883.8, VCV001409651.31
nssv18788393	duplication	Multiple	Multiple	DYRK1A Syndrome; DYRK1A-related intellectual disability syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003107882.7, VCV001409651.31

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970734	Remapped	Perfect	NC_000021.9:g.(?_3 1066952)_(37840682 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,066,952	37,840,682
nssv18788393	Remapped	Perfect	NC_000021.9:g.(?_3 1066952)_(37840682 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,066,952	37,840,682
nssv17970734	Submitted genomic		NC_000021.8:g.(?_3 2439271)_(39212984 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	32,439,271	39,212,984
nssv18788393	Submitted genomic		NC_000021.8:g.(?_3 2439271)_(39212984 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	32,439,271	39,212,984

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
nssv17970734	GRCh37: NC_000021.8:g.(?_32439271)_(39212984_?)dup	duplication	germline	AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; Amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type 1	Uncertain significance	ClinVar	RCV001939883.8, VCV001409651.31
nssv18788393	GRCh37: NC_000021.8:g.(?_32439271)_(39212984_?)dup	duplication	germline	DYRK1A Syndrome; DYRK1A-related intellectual disability syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003107882.7, VCV001409651.31

No genotype data were submitted for this variant

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