A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557820



Internal ID15998543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27593820..27679375hg38UCSC Ensembl
Innerchr12:27746753..27832308hg19UCSC Ensembl
Innerchr12:27638020..27723575hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3885556
hg1985556
hg1885556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2420n54
Supporting Variantsnssv1175453
SamplesHGDP00733
Known GenesPPFIBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557820
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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