A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3506275



Internal ID18457870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21369337..21415616hg38UCSC Ensembl
Innerchr12:21522271..21568550hg19UCSC Ensembl
Innerchr12:21413538..21459817hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3846280
hg1946280
hg1846280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040888
Supporting Variants
Samples
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3506275
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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