A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1864489



Internal ID17498890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:102880619..102890654hg38UCSC Ensembl
Innerchr10:104640376..104650411hg19UCSC Ensembl
Innerchr10:104630366..104640401hg18UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg3810036
hg1910036
hg1810036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948172
Supporting Variants
SamplesHGDP01029
Known GenesAS3MT, C10orf32-ASMT
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)nssv1864489
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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