A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600470



Internal ID16387879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178921553..178924390hg38UCSC Ensembl
Innerchr5:178348554..178351391hg19UCSC Ensembl
Innerchr5:178281160..178283997hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382838
hg192838
hg182838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10204n54
Supporting Variantsnssv1046192
Samples
Known GenesZFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600470
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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