A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2510432



Internal ID17770648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80300798..80301388hg38UCSC Ensembl
Innerchr8:81213033..81213623hg19UCSC Ensembl
Innerchr8:81375588..81376178hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971327
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)nssv2510432
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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