A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1000553



Internal ID15947823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62968251..65067958hg38UCSC Ensembl
Innerchr4:63833969..65933676hg19UCSC Ensembl
Innerchr4:63516564..65616271hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg382099708
hg192099708
hg182099708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594372
Supporting Variants
Samples
Known GenesLOC401134, TECRL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1000553
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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