A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2554379



Internal ID17433131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76397805..76400577hg38UCSC Ensembl
Innerchr9:79012721..79015493hg19UCSC Ensembl
Innerchr9:78202541..78205313hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382773
hg192773
hg182773
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972402
Supporting Variants
SamplesHGDP00665
Known GenesRPSAP9
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)nssv2554379
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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