A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1043279



Internal ID15549779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149346599..149413198hg38UCSC Ensembl
Innerchr5:148726162..148792761hg19UCSC Ensembl
Innerchr5:148706355..148772954hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3866600
hg1966600
hg1866600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599948
Supporting Variants
Samples
Known GenesGRPEL2, IL17B, MIR143HG, PCYOX1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1043279
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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