A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2558285



Internal ID17847129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:88398539..88415241hg38UCSC Ensembl
Innerchr9:91013454..91030156hg19UCSC Ensembl
Innerchr9:90203274..90219976hg18UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3816703
hg1916703
hg1816703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972416
Supporting Variants
SamplesHGDP01029
Known GenesSPIN1
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)nssv2558285
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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