A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983332



Internal ID18618526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55659272..55665071hg38UCSC Ensembl
Innerchr12:56053056..56058855hg19UCSC Ensembl
Innerchr12:54339323..54345122hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg385800
hg195800
hg185800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1933076, nssv1933074, nssv1933079, nssv1933083, nssv1933081, nssv1933078, nssv1933077, nssv1933080, nssv1933082, nssv1933075
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983332
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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