A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600471



Internal ID16387880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178921553..178925244hg38UCSC Ensembl
Innerchr5:178348554..178352245hg19UCSC Ensembl
Innerchr5:178281160..178284851hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383692
hg193692
hg183692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10205n54
Supporting Variantsnssv1046193, nssv1046197, nssv1046196, nssv1046194, nssv1046195, nssv1046198
Samples
Known GenesZFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600471
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer