A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287495



Internal ID22385899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686888..137688211hg38UCSC Ensembl
chr5:137022577..137023900hg19UCSC 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 Variantsnssv14464071
SamplesHG00733
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)nsv3287495
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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