A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612926



Internal ID16053649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144336587..144516801hg38UCSC Ensembl
Innerchr8:145560249..145742185hg19UCSC Ensembl
Innerchr8:145531057..145712993hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38180215
hg19181937
hg18181937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12434n54
Supporting Variantsnssv1125786
Samples
Known GenesADCK5, CPSF1, CYHR1, FBXL6, FOXH1, GPT, KIFC2, LOC100287098, MFSD3, MIR1234, MIR6849, MIR6893, MIR939, PPP1R16A, RECQL4, SLC39A4, SLC52A2, TMEM249, TONSL, VPS28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612926
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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