A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614693



Internal ID16402102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76304471..76306799hg38UCSC Ensembl
Innerchr9:78919387..78921715hg19UCSC Ensembl
Innerchr9:78109207..78111535hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12763n54
Supporting Variantsnssv1137507
Samples
Known GenesPCSK5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614693
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