A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560008



Internal ID16347417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101711211..101712225hg38UCSC Ensembl
Innerchr12:102104989..102106003hg19UCSC Ensembl
Innerchr12:100629120..100630134hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381015
hg191015
hg181015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2834n54
Supporting Variantsnssv801678, nssv801677, nssv801676
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560008
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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