A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2236525



Internal ID17748510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34833480..34844840hg38UCSC Ensembl
Innerchr20:33421283..33432643hg19UCSC Ensembl
Innerchr20:32884944..32896304hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3811361
hg1911361
hg1811361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964393
Supporting Variants
SamplesHGDP00521
Known GenesGGT7, HMGB3P1
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)nssv2236525
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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