A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031941



Internal ID19121163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71358233..71414620hg38UCSC Ensembl
Innerchr5:70654060..70710447hg19UCSC Ensembl
Innerchr5:70689816..70746203hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3856388
hg1956388
hg1856388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5698n100
Supporting Variantsnssv3641068
Samples
Known GenesPMCHL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031941
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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