A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789967



Internal ID15737237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27635751..27636388hg38UCSC Ensembl
Innerchr12:27788684..27789321hg19UCSC Ensembl
Innerchr12:27679951..27680588hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38638
hg19638
hg18638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557822
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789967
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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