A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593764



Internal ID16381173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15002329..15005183hg38UCSC Ensembl
Innerchr4:15003953..15006807hg19UCSC Ensembl
Innerchr4:14613051..14615905hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg382855
hg192855
hg182855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8978n54
Supporting Variantsnssv993091, nssv993090
Samples
Known GenesCPEB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593764
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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