A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053953



Internal ID19143172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545960..63705172hg38UCSC Ensembl
Innerchr12:63939740..64098952hg19UCSC Ensembl
Innerchr12:62226007..62385219hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38159213
hg19159213
hg18159213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1516n100
Supporting Variantsnssv3523676
Samples
Known GenesDPY19L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053953
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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