A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3503485



Internal ID18801766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20133661..20276106hg38UCSC Ensembl
Innerchr12:20286595..20429040hg19UCSC Ensembl
Innerchr12:20177862..20320307hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38142446
hg19142446
hg18142446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035141
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)nssv3503485
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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