A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557338



Internal ID15998061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8227371..8241781hg38UCSC Ensembl
Innerchr12:8379967..8394377hg19UCSC Ensembl
Innerchr12:8271234..8285644hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3814411
hg1914411
hg1814411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787431
Samples
Known GenesFAM86FP, FAM90A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557338
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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