A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2567752



Internal ID17425200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128341647..128343414hg38UCSC Ensembl
Innerchr9:131103926..131105693hg19UCSC Ensembl
Innerchr9:130143747..130145514hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381768
hg191768
hg181768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972453
Supporting Variants
SamplesHGDP00542
Known GenesSLC27A4
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)nssv2567752
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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