A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2563989



Internal ID17744437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:120721639..120722139hg38UCSC Ensembl
Innerchr9:123483917..123484417hg19UCSC Ensembl
Innerchr9:122523738..122524238hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972446
Supporting Variants
SamplesHGDP00521
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)nssv2563989
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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