A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525604



Internal ID22394982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132770063..132770149hg38UCSC Ensembl
chr5:132105755..132105841hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7525n152
Supporting Variantsnssv14324968, nssv14324969, nssv14324970
SamplesNA19240, HG00513, HG00514
Known GenesSEPT8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525604
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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