A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2514973



Internal ID17457508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100919009..100921531hg38UCSC Ensembl
Innerchr8:101931237..101933759hg19UCSC Ensembl
Innerchr8:102000413..102002935hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382523
hg192523
hg182523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971341
Supporting Variants
SamplesHGDP00778
Known GenesYWHAZ
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)nssv2514973
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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