A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560262



Internal ID16347671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112925887..112929471hg38UCSC Ensembl
Innerchr12:113363692..113367276hg19UCSC Ensembl
Innerchr12:111848075..111851659hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383585
hg193585
hg183585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2883n54
Supporting Variantsnssv802721, nssv802722, nssv802723
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560262
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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