A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596945



Internal ID16037668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6132053..6576767hg38UCSC Ensembl
Innerchr5:6132166..6576880hg19UCSC Ensembl
Innerchr5:6185166..6629880hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38444715
hg19444715
hg18444715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023699
Samples
Known GenesFLJ33360, MED10, UBE2QL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596945
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