A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2521116



Internal ID17841599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5092022..5110532hg38UCSC Ensembl
Innerchr9:5092022..5110532hg19UCSC Ensembl
Innerchr9:5082022..5100532hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3818511
hg1918511
hg1818511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972643
Supporting Variants
SamplesHGDP00998
Known GenesJAK2
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)nssv2521116
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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