A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2234128



Internal ID17751038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:32167417..32170726hg38UCSC Ensembl
Innerchr20:30755220..30758529hg19UCSC Ensembl
Innerchr20:30218881..30222190hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383310
hg193310
hg183310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979427
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)nssv2234128
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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