A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125815



Internal ID15632315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144492696..144514540hg38UCSC Ensembl
Innerchr8:145718079..145739924hg19UCSC Ensembl
Innerchr8:145688887..145710732hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3821845
hg1921846
hg1821846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612953
Supporting Variants
Samples
Known GenesGPT, MFSD3, PPP1R16A, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125815
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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