A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523671



Internal ID18821952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63513971..63734445hg38UCSC Ensembl
Innerchr12:63907751..64128225hg19UCSC Ensembl
Innerchr12:62194018..62414492hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38220475
hg19220475
hg18220475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036121
Supporting Variants
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)nssv3523671
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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