A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599327



Internal ID16386736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106894929..106897877hg38UCSC Ensembl
Innerchr5:106230630..106233578hg19UCSC Ensembl
Innerchr5:106258529..106261477hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg382949
hg192949
hg182949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10000n54
Supporting Variantsnssv1039834
Samples
Known GenesLOC102467213
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599327
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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