A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596795



Internal ID16384204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1008649..1009454hg38UCSC Ensembl
Innerchr5:1008764..1009569hg19UCSC Ensembl
Innerchr5:1061764..1062569hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9520n54
Supporting Variantsnssv1021482, nssv1021478, nssv1021481, nssv1021484, nssv1021479, nssv1021480, nssv1021483
Samples
Known GenesNKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596795
Frequency
Sample Size17421
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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