A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593763



Internal ID16381172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15002329..15004512hg38UCSC Ensembl
Innerchr4:15003953..15006136hg19UCSC Ensembl
Innerchr4:14613051..14615234hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg382184
hg192184
hg182184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8977n54
Supporting Variantsnssv993089
Samples
Known GenesCPEB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593763
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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