A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597793



Internal ID16385202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33935838..33968785hg38UCSC Ensembl
Innerchr5:33935943..33968890hg19UCSC Ensembl
Innerchr5:33971700..34004647hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3832948
hg1932948
hg1832948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153341
Samples1780854338_A
Known GenesRXFP3, SLC45A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597793
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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