A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175817



Internal ID15854431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7848316..7946706hg38UCSC Ensembl
Innerchr12:8000912..8099302hg19UCSC Ensembl
Innerchr12:7892179..7990569hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898391
hg1998391
hg1898391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557301
Supporting Variants
Samples1780862111_A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175817
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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