A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557116



Internal ID15997839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3576597..3989342hg38UCSC Ensembl
Innerchr12:3685763..4098508hg19UCSC Ensembl
Innerchr12:3556024..3968769hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38412746
hg19412746
hg18412746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175415
SamplesHGDP01312
Known GenesEFCAB4B, PARP11, PRMT8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557116
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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