A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2497467



Internal ID17743564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27064154..27070167hg38UCSC Ensembl
Innerchr8:26921671..26927684hg19UCSC Ensembl
Innerchr8:26977588..26983601hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg386014
hg196014
hg186014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971290
Supporting Variants
SamplesHGDP00456
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)nssv2497467
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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