A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1850108



Internal ID17877910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52388489..52390173hg38UCSC Ensembl
Innerchr10:54148249..54149933hg19UCSC Ensembl
Innerchr10:53818255..53819939hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381685
hg191685
hg181685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948010
Supporting Variants
SamplesHGDP01307
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)nssv1850108
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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