A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600730



Internal ID16041453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181151750..181195615hg38UCSC Ensembl
Innerchr5:180578750..180622615hg19UCSC Ensembl
Innerchr5:180511356..180555221hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3843866
hg1943866
hg1843866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1047549
Samples
Known GenesLOC102577426, OR2V2, TRIM7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600730
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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