A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2565344



Internal ID17740576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114324831..114335180hg38UCSC Ensembl
Innerchr9:117087111..117097460hg19UCSC Ensembl
Innerchr9:116126932..116137281hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3810350
hg1910350
hg1810350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968749
Supporting Variants
SamplesHGDP00456
Known GenesAKNA, ORM1, ORM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2565344
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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