A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530796



Internal ID22400166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159270855..159270855hg38UCSC Ensembl
chr5:158697863..158697863hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399138
SamplesNA19240
Known GenesUBLCP1
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)nsv3530796
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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