A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2222583



Internal ID17501166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219249827..219251406hg38UCSC Ensembl
Innerchr2:220114549..220116128hg19UCSC Ensembl
Innerchr2:219822793..219824372hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963775
Supporting Variants
SamplesHGDP01029
Known GenesSTK16, TUBA4A
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)nssv2222583
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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