A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559026



Internal ID16346435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57201154..57205107hg38UCSC Ensembl
Innerchr12:57594937..57598890hg19UCSC Ensembl
Innerchr12:55881204..55885157hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg383954
hg193954
hg183954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2650n54
Supporting Variantsnssv796314
Samples
Known GenesLRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559026
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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