A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125772



Internal ID15632272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144270080..144516381hg38UCSC Ensembl
Innerchr8:145494068..145741765hg19UCSC Ensembl
Innerchr8:145464876..145712573hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38246302
hg19247698
hg18247698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612918
Supporting Variants
Samples
Known GenesADCK5, BOP1, CPSF1, CYHR1, DGAT1, FBXL6, FOXH1, GPT, HSF1, KIFC2, LOC100287098, MFSD3, MIR1234, MIR6848, MIR6849, MIR6893, MIR939, PPP1R16A, RECQL4, SCRT1, 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)nssv1125772
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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