A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2683786



Internal ID17880357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20331992..20334153hg38UCSC Ensembl
Innerchr22:20319515..20321676hg19UCSC Ensembl
Innerchr22:18699515..18701676hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382162
hg192162
hg182162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966138
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2683786
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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