A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557821



Internal ID15998544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27602525..27679375hg38UCSC Ensembl
Innerchr12:27755458..27832308hg19UCSC Ensembl
Innerchr12:27646725..27723575hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3876851
hg1976851
hg1876851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2420n54
Supporting Variantsnssv1175454
SamplesHGDP00693
Known GenesPPFIBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557821
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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