A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2235704



Internal ID17457165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34200236..34215468hg38UCSC Ensembl
Innerchr20:32788042..32803274hg19UCSC Ensembl
Innerchr20:32251703..32266935hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3815233
hg1915233
hg1815233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962574
Supporting Variants
SamplesHGDP00778
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)nssv2235704
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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