A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559795



Internal ID16000518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148253..94150296hg38UCSC Ensembl
Innerchr12:94542029..94544072hg19UCSC Ensembl
Innerchr12:93066160..93068203hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382044
hg192044
hg182044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2795n54
Supporting Variantsnssv800735
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559795
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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