A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3505511



Internal ID18457106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3607219..3846326hg38UCSC Ensembl
Innerchr12:3716385..3955492hg19UCSC Ensembl
Innerchr12:3586646..3825753hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38239108
hg19239108
hg18239108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036828
Supporting Variants
Samples
Known GenesEFCAB4B, PARP11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3505511
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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