A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557339



Internal ID15998062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8227371..8278405hg38UCSC Ensembl
Innerchr12:8379967..8431001hg19UCSC Ensembl
Innerchr12:8271234..8322268hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3851035
hg1951035
hg1851035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787432
Samples
Known GenesFAM86FP, FAM90A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557339
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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