A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2506355



Internal ID17843569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:65155548..65156883hg38UCSC Ensembl
Innerchr8:66067783..66069118hg19UCSC Ensembl
Innerchr8:66230337..66231672hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg381336
hg191336
hg181336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971658
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2506355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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