A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175443



Internal ID15533230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21379166..21415117hg38UCSC Ensembl
Innerchr12:21532100..21568051hg19UCSC Ensembl
Innerchr12:21423367..21459318hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3835952
hg1935952
hg1835952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557740
Supporting Variants
SamplesNINDS_125
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175443
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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