A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2360626



Internal ID17528724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69364770..69366169hg38UCSC Ensembl
Innerchr5:68660597..68661996hg19UCSC Ensembl
Innerchr5:68696353..68697752hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381400
hg191400
hg181400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980655
Supporting Variants
SamplesHGDP01284
Known GenesAK6, TAF9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2360626
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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