A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2488919



Internal ID17809184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98143..163030hg38UCSC Ensembl
Innerchr8:48143..113030hg19UCSC Ensembl
Innerchr8:38143..103030hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3864888
hg1964888
hg1864888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967549
Supporting Variants
SamplesHGDP00778
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2488919
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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