A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599741



Internal ID16387150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134923501..134927536hg38UCSC Ensembl
Innerchr5:134259191..134263226hg19UCSC Ensembl
Innerchr5:134287090..134291125hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384036
hg194036
hg184036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10075n54
Supporting Variantsnssv1032713
Samples
Known GenesPCBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599741
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