A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050043



Internal ID19139262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47555221..47693435hg38UCSC Ensembl
Innerchr12:47949004..48087218hg19UCSC Ensembl
Innerchr12:46235271..46373485hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38138215
hg19138215
hg18138215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523519
Samples
Known GenesRPAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050043
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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