A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524654



Internal ID18822935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81839488..81884512hg38UCSC Ensembl
Innerchr12:82233267..82278291hg19UCSC Ensembl
Innerchr12:80757398..80802422hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3845025
hg1945025
hg1845025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044564
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524654
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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