A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028933



Internal ID19118152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123053244..123169478hg38UCSC Ensembl
Innerchr8:124065484..124181718hg19UCSC Ensembl
Innerchr8:124134665..124250899hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38116235
hg19116235
hg18116235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3691497
Samples
Known GenesTBC1D31
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028933
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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