A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600166



Internal ID16040889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159884897..159921891hg38UCSC Ensembl
Innerchr5:159311904..159348898hg19UCSC Ensembl
Innerchr5:159244482..159281476hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3836995
hg1936995
hg1836995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154009
Samples1780854479_A
Known GenesADRA1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600166
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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