A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516203



Internal ID15443496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87246726..87307076hg38UCSC Ensembl
Innerchr4:88167878..88228228hg19UCSC Ensembl
Innerchr4:88386902..88447252hg18UCSC Ensembl
Innerchr4:88525057..88585407hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3860351
hg1960351
hg1860351
hg1760351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666796, nssv686936, nssv659076, nssv674175
Samples
Known GenesHSD17B13, MIR5705
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516203
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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