A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560172



Internal ID16000895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111418568..111446804hg38UCSC Ensembl
Innerchr12:111856372..111884608hg19UCSC Ensembl
Innerchr12:110340755..110368991hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3828237
hg1928237
hg1828237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802027
Samples
Known GenesSH2B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560172
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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