A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1843727



Internal ID17844474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42803591..42823826hg38UCSC Ensembl
Innerchr10:43299039..43319274hg19UCSC Ensembl
Innerchr10:42619045..42639280hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3820236
hg1920236
hg1820236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947891
Supporting Variants
SamplesHGDP01029
Known GenesBMS1
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)nssv1843727
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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