A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2255703



Internal ID17730072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20334153..20340003hg38UCSC Ensembl
Innerchr22:20321676..20327526hg19UCSC Ensembl
Innerchr22:18701676..18707526hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385851
hg195851
hg185851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962756
Supporting Variants
SamplesHGDP00456
Known GenesLOC729444
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)nssv2255703
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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