A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559802



Internal ID16000525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148827..94150048hg38UCSC Ensembl
Innerchr12:94542603..94543824hg19UCSC Ensembl
Innerchr12:93066734..93067955hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381222
hg191222
hg181222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800743
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559802
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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