A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1852232



Internal ID17844934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:67750333..67757117hg38UCSC Ensembl
Innerchr10:69510091..69516875hg19UCSC Ensembl
Innerchr10:69180097..69186881hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg386785
hg196785
hg186785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948042
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)nssv1852232
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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