A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2503236



Internal ID17739963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53536405..53541674hg38UCSC Ensembl
Innerchr8:54448965..54454234hg19UCSC Ensembl
Innerchr8:54611518..54616787hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg385270
hg195270
hg185270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971308
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2503236
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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