A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2518862



Internal ID17744865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133407894..133410961hg38UCSC Ensembl
Innerchr8:134420137..134423204hg19UCSC Ensembl
Innerchr8:134489319..134492386hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383068
hg193068
hg183068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967631
Supporting Variants
SamplesHGDP00521
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)nssv2518862
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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