A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560092



Internal ID16347501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:107641050..107651974hg38UCSC Ensembl
Innerchr12:108034827..108045751hg19UCSC Ensembl
Innerchr12:106558957..106569881hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3810925
hg1910925
hg1810925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176429
SamplesHGDP00862
Known GenesBTBD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560092
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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