A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1797497



Internal ID17434372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149885754..149887726hg38UCSC Ensembl
Innerchr1:149857304..149859276hg19UCSC Ensembl
Innerchr1:148123928..148125900hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381973
hg191973
hg181973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946382
Supporting Variants
SamplesHGDP00665
Known GenesHIST2H2AB, HIST2H2AC, HIST2H2BE
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)nssv1797497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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