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dbVar

Database of genomic structural variation

nsv5381707

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:613,718

Description:NC_000009.11:g.(?_34458994)_(35072710_?)dup AND multiple conditions
Publication(s):Kimonis et al. 2007, Kinsley et al. 2001

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: 1432 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):34,458,996-35,072,713

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381707	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	34,458,996	35,072,713
nsv5381707	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	34,458,994	35,072,710

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867278	duplication	Multiple	Multiple	Amyotrophic lateral sclerosis; FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6; FTDALS6; Frontotemporal dementia with motor neuron disease; Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; Inclusion body myopathy/Paget disease/frontotemporal dementia; amyotrophic lateral sclerosis 14, with or without frontotemporal dementia	Uncertain significance	ClinVar	RCV001346193.1, VCV001042271.3
nssv17059196	duplication	Multiple	Multiple	AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16; Amyotrophic lateral sclerosis 16, juvenile; Distal hereditary motor neuropathy, Jerash type; Distal spinal muscular atrophy, autosomal recessive 2; Juvenile amyotrophic lateral sclerosis; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001374141.2, VCV001042271.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867278	Remapped	Perfect	NC_000009.12:g.(?_ 34458996)_(3507271 3_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	34,458,996	35,072,713
nssv17059196	Remapped	Perfect	NC_000009.12:g.(?_ 34458996)_(3507271 3_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	34,458,996	35,072,713
nssv16867278	Submitted genomic		NC_000009.11:g.(?_ 34458994)_(3507271 0_?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	34,458,994	35,072,710
nssv17059196	Submitted genomic		NC_000009.11:g.(?_ 34458994)_(3507271 0_?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	34,458,994	35,072,710

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
nssv16867278	GRCh37: NC_000009.11:g.(?_34458994)_(35072710_?)dup	duplication	germline	Amyotrophic lateral sclerosis; FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6; FTDALS6; Frontotemporal dementia with motor neuron disease; Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; Inclusion body myopathy/Paget disease/frontotemporal dementia; amyotrophic lateral sclerosis 14, with or without frontotemporal dementia	Uncertain significance	ClinVar	RCV001346193.1, VCV001042271.3
nssv17059196	GRCh37: NC_000009.11:g.(?_34458994)_(35072710_?)dup	duplication	germline	AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16; Amyotrophic lateral sclerosis 16, juvenile; Distal hereditary motor neuropathy, Jerash type; Distal spinal muscular atrophy, autosomal recessive 2; Juvenile amyotrophic lateral sclerosis; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001374141.2, VCV001042271.3

No genotype data were submitted for this variant

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