A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597248



Internal ID16384657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14581714..14582222hg38UCSC Ensembl
Innerchr5:14581823..14582331hg19UCSC Ensembl
Innerchr5:14634823..14635331hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38509
hg19509
hg18509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9606n54
Supporting Variantsnssv1026041
Samples
Known GenesFAM105A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597248
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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