A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv988527



Internal ID15935797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2058874..2075739hg38UCSC Ensembl
Innerchr4:2060601..2077466hg19UCSC Ensembl
Innerchr4:2030399..2047264hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3816866
hg1916866
hg1816866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593372
Supporting Variants
Samples
Known GenesNAT8L, POLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv988527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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