A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600480



Internal ID16387889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178922056..178924511hg38UCSC Ensembl
Innerchr5:178349057..178351512hg19UCSC Ensembl
Innerchr5:178281663..178284118hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382456
hg192456
hg182456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10204n54
Supporting Variantsnssv1046285
Samples
Known GenesZFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600480
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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