A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558598



Internal ID16346007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40348561..40434462hg38UCSC Ensembl
Innerchr12:40742363..40828264hg19UCSC Ensembl
Innerchr12:39028630..39114531hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3885902
hg1985902
hg1885902
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv793672
Samples
Known GenesLRRK2, MUC19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558598
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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