A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612812



Internal ID16053535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143563290..143592878hg38UCSC Ensembl
Innerchr8:144645460..144675048hg19UCSC Ensembl
Innerchr8:144716603..144746191hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3829589
hg1929589
hg1829589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156661
SamplesHGDP00823
Known GenesEEF1D, MROH6, NAPRT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612812
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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