A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583245



Internal ID16023968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143730799..143759500hg38UCSC Ensembl
Innerchr2:144488368..144517069hg19UCSC Ensembl
Innerchr2:144204838..144233539hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3828702
hg1928702
hg1828702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151323
SamplesNINDS_162
Known GenesARHGAP15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583245
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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