A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1822568



Internal ID17810316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228457811..228459812hg38UCSC Ensembl
Innerchr1:228645512..228647513hg19UCSC Ensembl
Innerchr1:226712135..226714136hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382002
hg192002
hg182002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945354
Supporting Variants
SamplesHGDP00927
Known GenesHIST3H2A, HIST3H2BB
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)nssv1822568
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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