A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2497767



Internal ID17809895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23632887..23634957hg38UCSC Ensembl
Innerchr8:23490400..23492470hg19UCSC Ensembl
Innerchr8:23546345..23548415hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382071
hg192071
hg182071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971289
Supporting Variants
SamplesHGDP00927
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)nssv2497767
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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