A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048842



Internal ID19138061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53807011..53827706hg38UCSC Ensembl
Innerchr13:54381146..54401841hg19UCSC Ensembl
Innerchr13:53279147..53299842hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3820696
hg1920696
hg1820696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523478
Samples
Known GenesLINC00558
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048842
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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