A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559787



Internal ID16347196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148083..94149389hg38UCSC Ensembl
Innerchr12:94541859..94543165hg19UCSC Ensembl
Innerchr12:93065990..93067296hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381307
hg191307
hg181307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2794n54
Supporting Variantsnssv800716, nssv800717
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559787
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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