A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2760032



Internal ID17826894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73854193..73869417hg38UCSC Ensembl
Innerchr11:73565238..73580462hg19UCSC Ensembl
Innerchr11:73242886..73258110hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3815225
hg1915225
hg1815225
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983206
Supporting Variants
SamplesHGDP00998
Known GenesMRPL48
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2760032
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