A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2517982



Internal ID17852943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133324943..133326599hg38UCSC Ensembl
Innerchr8:134337186..134338842hg19UCSC Ensembl
Innerchr8:134406368..134408024hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381657
hg191657
hg181657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971353
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)nssv2517982
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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