A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2517341



Internal ID17742663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123236208..123237232hg38UCSC Ensembl
Innerchr8:124248448..124249472hg19UCSC Ensembl
Innerchr8:124317629..124318653hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981978
Supporting Variants
SamplesHGDP00456
Known GenesC8orf76, ZHX1-C8ORF76
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)nssv2517341
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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