A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054458



Internal ID19143677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122561115..122648998hg38UCSC Ensembl
Innerchr12:123045662..123133545hg19UCSC Ensembl
Innerchr12:121611615..121699498hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3887884
hg1987884
hg1887884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526095
Samples
Known GenesKNTC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054458
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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