A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583037



Internal ID16023760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127576895..127643516hg38UCSC Ensembl
Innerchr2:128334470..128401091hg19UCSC Ensembl
Innerchr2:128050940..128117561hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3866622
hg1966622
hg1866622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv919664
Samples
Known GenesLIMS2, MYO7B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583037
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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