A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2502465



Internal ID17771352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47091966..47109950hg38UCSC Ensembl
Innerchr8:48003589..48021573hg19UCSC Ensembl
Innerchr8:48122754..48140738hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3817985
hg1917985
hg1817985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971647
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)nssv2502465
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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