A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047810



Internal ID19137029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:105673271..105852804hg38UCSC Ensembl
Innerchr12:106067049..106246582hg19UCSC Ensembl
Innerchr12:104591179..104770712hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38179534
hg19179534
hg18179534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1551n100
Supporting Variantsnssv3524875
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)nsv1047810
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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