A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048170



Internal ID19137389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54451578..54514850hg38UCSC Ensembl
Innerchr13:55025713..55088985hg19UCSC Ensembl
Innerchr13:53923714..53986986hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3863273
hg1963273
hg1863273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1655n100
Supporting Variantsnssv3523482, nssv3523481
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)nsv1048170
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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