A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2557468



Internal ID17531247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:92148325..92157801hg38UCSC Ensembl
Innerchr9:94910607..94920083hg19UCSC Ensembl
Innerchr9:93950428..93959904hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg389477
hg199477
hg189477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972779
Supporting Variants
SamplesHGDP01307
Known GenesLINC00475
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)nssv2557468
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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