A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609451



Internal ID16050174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:214984..684607hg38UCSC Ensembl
Innerchr8:164984..634607hg19UCSC Ensembl
Innerchr8:154984..624607hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38469624
hg19469624
hg18469624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156564
SamplesHGDP00602
Known GenesERICH1, FAM87A, FBXO25, RPL23AP53, TDRP, ZNF596
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609451
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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