A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1797400



Internal ID17434370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149849982..149870559hg38UCSC Ensembl
Innerchr1:149821549..149842106hg19UCSC Ensembl
Innerchr1:148088173..148108730hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3820578
hg1920558
hg1820558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946381
Supporting Variants
SamplesHGDP00665
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
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)nssv1797400
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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