A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1852745



Internal ID17811754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:63153307..63156399hg38UCSC Ensembl
Innerchr10:64913067..64916159hg19UCSC Ensembl
Innerchr10:64583073..64586165hg18UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg383093
hg193093
hg183093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948033
Supporting Variants
SamplesHGDP00927
Known GenesNRBF2
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)nssv1852745
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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