A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597255



Internal ID16384664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14664370..14664898hg38UCSC Ensembl
Innerchr5:14664479..14665007hg19UCSC Ensembl
Innerchr5:14717479..14718007hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38529
hg19529
hg18529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026056, nssv1026057
Samples
Known GenesFAM105B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597255
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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