A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583520



Internal ID16024243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:162267541..162611723hg38UCSC Ensembl
Innerchr2:163124051..163468233hg19UCSC Ensembl
Innerchr2:162832297..163176479hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38344183
hg19344183
hg18344183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv924936
Samples
Known GenesGCA, IFIH1, KCNH7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583520
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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