A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040888



Internal ID18783419
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 StatusM
Merged Variants
Supporting Variantsnssv3506275
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)nsv1040888
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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