A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2236435



Internal ID17442654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34401230..34402840hg38UCSC Ensembl
Innerchr20:32989036..32990646hg19UCSC Ensembl
Innerchr20:32452697..32454307hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381611
hg191611
hg181611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964392
Supporting Variants
SamplesHGDP00665
Known GenesITCH
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)nssv2236435
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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