A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2240297



Internal ID17831413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:55074288..55075703hg38UCSC Ensembl
Innerchr20:53690827..53692242hg19UCSC Ensembl
Innerchr20:53124234..53125649hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979443
Supporting Variants
SamplesHGDP00998
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)nssv2240297
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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