A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1776189



Internal ID17829483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:90281036..90284234hg38UCSC Ensembl
Innerchr1:90746594..90749792hg19UCSC Ensembl
Innerchr1:90519182..90522380hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946064
Supporting Variants
SamplesHGDP00998
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)nssv1776189
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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