A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1846104



Internal ID17761929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45750267..45769503hg38UCSC Ensembl
Innerchr10:46245715..46264951hg19UCSC Ensembl
Innerchr10:45565721..45584957hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3819237
hg1919237
hg1819237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947915
Supporting Variants
SamplesHGDP00542
Known GenesFAM21C
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)nssv1846104
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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