A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600479



Internal ID16387888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178921932..178926155hg38UCSC Ensembl
Innerchr5:178348933..178353156hg19UCSC Ensembl
Innerchr5:178281539..178285762hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384224
hg194224
hg184224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10206n54
Supporting Variantsnssv1046284, nssv1046283
Samples
Known GenesZFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600479
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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