A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2232641



Internal ID17788602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:22271584..22274188hg38UCSC Ensembl
Innerchr20:22252222..22254826hg19UCSC Ensembl
Innerchr20:22200222..22202826hg18UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg382605
hg192605
hg182605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962562
Supporting Variants
SamplesHGDP00665
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)nssv2232641
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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