A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556918



Internal ID15997641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:757691..769498hg38UCSC Ensembl
Innerchr12:866857..878664hg19UCSC Ensembl
Innerchr12:737118..748925hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811808
hg1911808
hg1811808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2256n54
Supporting Variantsnssv786074
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556918
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer