A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557808



Internal ID15998531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27288899..27339805hg38UCSC Ensembl
Innerchr12:27441832..27492738hg19UCSC Ensembl
Innerchr12:27333099..27384005hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3850907
hg1950907
hg1850907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175452
SamplesHGDP00557
Known GenesARNTL2, STK38L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557808
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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