A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243166



Internal ID21309239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58957329..59082384hg38UCSC Ensembl
Outerchr11:58956908..59086292hg38UCSC Ensembl
Innerchr11:58724802..58849857hg19UCSC Ensembl
Outerchr11:58724381..58853765hg19UCSC Ensembl
Innerchr11:58481378..58606433hg18UCSC Ensembl
Outerchr11:58480957..58610341hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38129385
hg19129385
hg18129385
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169836
Supporting Variants
SamplesNGO_49
Known GenesGLYATL1, LOC283194
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243166
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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