A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556913



Internal ID15997636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:757691..763747hg38UCSC Ensembl
Innerchr12:866857..872913hg19UCSC Ensembl
Innerchr12:737118..743174hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386057
hg196057
hg186057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2259n54
Supporting Variantsnssv785900, nssv785906, nssv785901, nssv785903, nssv785905, nssv785904, nssv785902
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556913
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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