A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2690865



Internal ID17883801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50792836..50802734hg38UCSC Ensembl
Innerchr22:51231264..51241162hg19UCSC Ensembl
Innerchr22:49578130..49588028hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg389899
hg199899
hg189899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966166
Supporting Variants
SamplesHGDP01307
Known GenesRPL23AP82
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2690865
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer