A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560258



Internal ID16347667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112922497..112928244hg38UCSC Ensembl
Innerchr12:113360302..113366049hg19UCSC Ensembl
Innerchr12:111844685..111850432hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg385748
hg195748
hg185748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802672, nssv802671
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560258
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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