A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560000



Internal ID16347409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100545307..100549902hg38UCSC Ensembl
Innerchr12:100939085..100943680hg19UCSC Ensembl
Innerchr12:99463216..99467811hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384596
hg194596
hg184596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2833n54
Supporting Variantsnssv801664, nssv801665
Samples
Known GenesNR1H4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560000
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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