A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045538



Internal ID19134757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117491595..117525526hg38UCSC Ensembl
Innerchr12:117929400..117963331hg19UCSC Ensembl
Innerchr12:116413783..116447714hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3833932
hg1933932
hg1833932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526073
Samples
Known GenesKSR2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045538
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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