A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264978



Internal ID17772067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31204594..31206634hg38UCSC Ensembl
Innerchr22:31600580..31602620hg19UCSC Ensembl
Innerchr22:29930580..29932620hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382041
hg192041
hg182041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979669
Supporting Variants
SamplesHGDP00542
Known GenesRNF185
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2264978
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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