A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798438



Internal ID17392658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149821422..149843849hg38UCSC Ensembl
Innerchr1:149792977..149815416hg19UCSC Ensembl
Innerchr1:148059601..148082040hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3822428
hg1922440
hg1822440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946379
Supporting Variants
SamplesHGDP00456
Known GenesHIST2H2AA3, HIST2H2AA4, 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)nssv1798438
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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