A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2239480



Internal ID17733710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53743028..53749426hg38UCSC Ensembl
Innerchr20:52359567..52365965hg19UCSC Ensembl
Innerchr20:51792974..51799372hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386399
hg196399
hg186399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965887
Supporting Variants
SamplesHGDP00456
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)nssv2239480
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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