A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2255329



Internal ID17536314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19791729..19795952hg38UCSC Ensembl
Innerchr22:19779252..19783475hg19UCSC Ensembl
Innerchr22:18159252..18163475hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384224
hg194224
hg184224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964584
Supporting Variants
SamplesHGDP01307
Known GenesGNB1L
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)nssv2255329
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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