A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204413



Internal ID22353265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173609432..173613128hg38UCSC Ensembl
chr5:173036435..173040131hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383697
hg193697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14324551, nssv14324550
SamplesNA19238, NA19239
Known GenesBOD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204413
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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