A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600483



Internal ID16387892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178922390..178925819hg38UCSC Ensembl
Innerchr5:178349391..178352820hg19UCSC Ensembl
Innerchr5:178281997..178285426hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383430
hg193430
hg183430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10205n54
Supporting Variantsnssv1046293
Samples
Known GenesZFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600483
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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