A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981206



Internal ID18616405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166701393..166702011hg38UCSC Ensembl
Innerchr6:167114881..167115499hg19UCSC Ensembl
Innerchr6:167034871..167035489hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38619
hg19619
hg18619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2431955, nssv2431957, nssv2431956, nssv2431962, nssv2431954, nssv2431959, nssv2431960, nssv2431958, nssv2431953, nssv2431961
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)nsv981206
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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