A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2257749



Internal ID17888328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21544639..21564488hg38UCSC Ensembl
Innerchr22:21898928..21918777hg19UCSC Ensembl
Innerchr22:20228928..20248777hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3819850
hg1919850
hg1819850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966082
Supporting Variants
SamplesHGDP01307
Known GenesRIMBP3B, RIMBP3C, UBE2L3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2257749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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