A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021530



Internal ID19110748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112290569..112347620hg38UCSC Ensembl
Innerchr5:111626266..111683317hg19UCSC Ensembl
Innerchr5:111654165..111711216hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3857052
hg1957052
hg1857052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5782n100
Supporting Variantsnssv3647053, nssv3647054
Samples
Known GenesEPB41L4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021530
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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