A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508393



Internal ID17848355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69983446..69991824hg38UCSC Ensembl
Innerchr8:70895681..70904059hg19UCSC Ensembl
Innerchr8:71058235..71066613hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg388379
hg198379
hg188379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967602
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)nssv2508393
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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