A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2510620



Internal ID17876823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80593837..80596067hg38UCSC Ensembl
Innerchr8:81506072..81508302hg19UCSC Ensembl
Innerchr8:81668627..81670857hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg382231
hg192231
hg182231
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967607
Supporting Variants
SamplesHGDP01307
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)nssv2510620
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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