A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2565068



Internal ID17871919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110022058..110027432hg38UCSC Ensembl
Innerchr9:112784338..112789712hg19UCSC Ensembl
Innerchr9:111824159..111829533hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg385375
hg195375
hg185375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972441
Supporting Variants
SamplesHGDP01284
Known GenesPALM2-AKAP2
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)nssv2565068
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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