A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597256



Internal ID16384665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14664424..14665506hg38UCSC Ensembl
Innerchr5:14664533..14665615hg19UCSC Ensembl
Innerchr5:14717533..14718615hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381083
hg191083
hg181083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026058
Samples
Known GenesFAM105B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597256
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer