A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557301



Internal ID16344710
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 StatusM
Merged Variantsdgv2334n54
Supporting Variantsnssv1175817, nssv1175816
SamplesHGDP00456, 1780862111_A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557301
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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