A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600472



Internal ID16387881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178921553..178925385hg38UCSC Ensembl
Innerchr5:178348554..178352386hg19UCSC Ensembl
Innerchr5:178281160..178284992hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383833
hg193833
hg183833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10205n54
Supporting Variantsnssv1046199
Samples
Known GenesZFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600472
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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