A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2516033



Internal ID17846845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103084398..103085335hg38UCSC Ensembl
Innerchr8:104096626..104097563hg19UCSC Ensembl
Innerchr8:104165802..104166739hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38938
hg19938
hg18938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967624
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)nssv2516033
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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