A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1778362



Internal ID17483075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92832907..92834132hg38UCSC Ensembl
Innerchr1:93298464..93299689hg19UCSC Ensembl
Innerchr1:93071052..93072277hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381226
hg191226
hg181226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946076
Supporting Variants
SamplesHGDP00998
Known GenesFAM69A, RPL5
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)nssv1778362
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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