A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045363



Internal ID19134582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118653929..118781854hg38UCSC Ensembl
Innerchr12:119091734..119219659hg19UCSC Ensembl
Innerchr12:117576117..117704042hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38127926
hg19127926
hg18127926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1563n100
Supporting Variantsnssv3526076
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045363
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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