A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193523



Internal ID22343959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133031012..133031063hg38UCSC Ensembl
chr5:132366704..132366755hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7526n152
Supporting Variantsnssv14324977, nssv14324976
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193523
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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