A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612917



Internal ID16053640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144045204..144063598hg38UCSC Ensembl
Innerchr8:145100105..145118501hg19UCSC Ensembl
Innerchr8:145172093..145190489hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3818395
hg1918397
hg1818397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125771
Samples
Known GenesMIR6846, OPLAH, SPATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612917
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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