A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2544262



Internal ID17812817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62387645..62415164hg38UCSC Ensembl
Innerchr9:46698946..46726465hg19UCSC Ensembl
Innerchr9:46538942..46566461hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3827520
hg1927520
hg1827520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982266
Supporting Variants
SamplesHGDP00927
Known GenesKGFLP1, LOC643648
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)nssv2544262
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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