A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176429



Internal ID15876570
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 StatusS
Merged Variantsnsv560092
Supporting Variants
SamplesHGDP00862
Known GenesBTBD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176429
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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