A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600706



Internal ID16041429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181006880..181206854hg38UCSC Ensembl
Innerchr5:180433880..180633854hg19UCSC Ensembl
Innerchr5:180366486..180566460hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38199975
hg19199975
hg18199975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10251n54
Supporting Variantsnssv1153380
SamplesHGDP00473
Known GenesBTNL9, LOC102577426, MIR8089, OR2V1, OR2V2, TRIM7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600706
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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