A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2238078



Internal ID17487983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45743778..45747966hg38UCSC Ensembl
Innerchr20:44372417..44376605hg19UCSC Ensembl
Innerchr20:43805824..43810012hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg384189
hg194189
hg184189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965878
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)nssv2238078
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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