A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594789



Internal ID16035512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87570564..87653210hg38UCSC Ensembl
Innerchr4:88491716..88574362hg19UCSC Ensembl
Innerchr4:88710740..88793386hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3882647
hg1982647
hg1882647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002766
Samples
Known GenesDMP1, DSPP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594789
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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