A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv911339



Internal ID15858609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63346276..64470570hg38UCSC Ensembl
Innerchr2:63573411..64697704hg19UCSC Ensembl
Innerchr2:63426915..64551208hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381124295
hg191124294
hg181124294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582126
Supporting Variants
Samples
Known GenesLGALSL, LINC00309, MDH1, PELI1, UGP2, VPS54, WDPCP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv911339
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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