A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597243



Internal ID16384652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14581657..14582164hg38UCSC Ensembl
Innerchr5:14581766..14582273hg19UCSC Ensembl
Innerchr5:14634766..14635273hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38508
hg19508
hg18508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9606n54
Supporting Variantsnssv1026029
Samples
Known GenesFAM105A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597243
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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