A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648138



Internal ID18599733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138461691..138483227hg38UCSC Ensembl
Innerchr5:137797380..137818916hg19UCSC Ensembl
Innerchr5:137825279..137846815hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3821537
hg1921537
hg1821537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025177
Supporting Variants
Samples
Known GenesEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648138
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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