A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597764



Internal ID16038487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31629019..31649431hg38UCSC Ensembl
Innerchr5:31629126..31649538hg19UCSC Ensembl
Innerchr5:31664883..31685295hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3820413
hg1920413
hg1820413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028855
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597764
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