A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597241



Internal ID16384650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14581447..14582326hg38UCSC Ensembl
Innerchr5:14581556..14582435hg19UCSC Ensembl
Innerchr5:14634556..14635435hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38880
hg19880
hg18880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9605n54
Supporting Variantsnssv1026021, nssv1026020
Samples
Known GenesFAM105A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597241
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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