A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559789



Internal ID16347198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148083..94149635hg38UCSC Ensembl
Innerchr12:94541859..94543411hg19UCSC Ensembl
Innerchr12:93065990..93067542hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381553
hg191553
hg181553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2794n54
Supporting Variantsnssv800722, nssv800725, nssv800723, nssv800724
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559789
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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