A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2503140



Internal ID17772800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53531459..53535109hg38UCSC Ensembl
Innerchr8:54444019..54447669hg19UCSC Ensembl
Innerchr8:54606572..54610222hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg383651
hg193651
hg183651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981938
Supporting Variants
SamplesHGDP00542
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)nssv2503140
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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