A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2549838



Internal ID17753787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:65254059..65284640hg38UCSC Ensembl
Innerchr9:70147665..70178246hg19UCSC Ensembl
Innerchr9:69437485..69468066hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3830582
hg1930582
hg1830582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972750
Supporting Variants
SamplesHGDP00521
Known GenesFOXD4L5
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)nssv2549838
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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