A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800715



Internal ID15747985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94147139..94150296hg38UCSC Ensembl
Innerchr12:94540915..94544072hg19UCSC Ensembl
Innerchr12:93065046..93068203hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383158
hg193158
hg183158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559786
Supporting Variants
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800715
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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