A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597767



Internal ID16038490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32100606..32145851hg38UCSC Ensembl
Innerchr5:32100712..32145957hg19UCSC Ensembl
Innerchr5:32136469..32181714hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3845246
hg1945246
hg1845246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9714n54
Supporting Variantsnssv1028858
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597767
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