A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048045



Internal ID19137264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63747736..63845410hg38UCSC Ensembl
Innerchr13:64321869..64419543hg19UCSC Ensembl
Innerchr13:63219870..63317544hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3897675
hg1997675
hg1897675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1692n100
Supporting Variantsnssv3711810, nssv3526728, nssv3526729
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)nsv1048045
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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