A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3508708



Internal ID18806989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34141492..34701551hg38UCSC Ensembl
Innerchr12:34294427..34854486hg19UCSC Ensembl
Innerchr12:34185694..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38560060
hg19560060
hg18560060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1041843
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)nssv3508708
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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