A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2554005



Internal ID17869821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:79036077..79039019hg38UCSC Ensembl
Innerchr9:81650993..81653935hg19UCSC Ensembl
Innerchr9:80840813..80843755hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg382943
hg192943
hg182943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972404
Supporting Variants
SamplesHGDP01284
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)nssv2554005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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