A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557300



Internal ID16344709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7848316..7938243hg38UCSC Ensembl
Innerchr12:8000912..8090839hg19UCSC Ensembl
Innerchr12:7892179..7982106hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3889928
hg1989928
hg1889928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2334n54
Supporting Variantsnssv1175815
SamplesHGDP00210
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557300
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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