A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596705



Internal ID16384114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:560808..611638hg38UCSC Ensembl
Innerchr5:560923..611753hg19UCSC Ensembl
Innerchr5:613923..664753hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3850831
hg1950831
hg1850831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9496n54
Supporting Variantsnssv1153280
SamplesHGDP00187
Known GenesLOC100996325
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596705
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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