A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2494257



Internal ID17745321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7667128..7774629hg38UCSC Ensembl
Innerchr8:7524650..7632151hg19UCSC Ensembl
Innerchr8:7561977..7669561hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38107502
hg19107502
hg18107585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981906
Supporting Variants
SamplesHGDP00521
Known GenesFAM90A10P
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)nssv2494257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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