A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559001



Internal ID15999724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55113681..55663924hg38UCSC Ensembl
Innerchr12:55507465..56057708hg19UCSC Ensembl
Innerchr12:53793732..54343975hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38550244
hg19550244
hg18550244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796286
Samples
Known GenesOR10A7, OR10P1, OR2AP1, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C75, OR6C76, OR9K2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559001
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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