A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249753



Internal ID21310958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78511982..78656203hg38UCSC Ensembl
Outerchr11:78508944..78661491hg38UCSC Ensembl
Innerchr11:78223028..78367248hg19UCSC Ensembl
Outerchr11:78219990..78372536hg19UCSC Ensembl
Innerchr11:77900676..78044896hg18UCSC Ensembl
Outerchr11:77897638..78050184hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38152548
hg19152547
hg18152547
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169597
Supporting Variants
SamplesPML_2
Known GenesNARS2, TENM4
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249753
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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