A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284207



Internal ID22382567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686873..137688196hg38UCSC Ensembl
chr5:137022562..137023885hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7535n152
Supporting Variantsnssv14436838, nssv14410688
SamplesNA19240, HG00514
Known GenesKLHL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3284207
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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