A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969468



Internal ID18604695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166585376..166586497hg38UCSC Ensembl
Innerchr6:166998864..166999985hg19UCSC Ensembl
Innerchr6:166918854..166919975hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381122
hg191122
hg181122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2431767, nssv2431761, nssv2431766, nssv2431759, nssv2431768, nssv2431760, nssv2431765, nssv2431762, nssv2431764, nssv2431763
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS6KA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969468
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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