A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560012



Internal ID16347421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101711211..101713135hg38UCSC Ensembl
Innerchr12:102104989..102106913hg19UCSC Ensembl
Innerchr12:100629120..100631044hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381925
hg191925
hg181925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2835n54
Supporting Variantsnssv801683
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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