A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535437



Internal ID22404682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132208421..132208421hg38UCSC Ensembl
chr5:131544114..131544114hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424681, nssv14453947
SamplesHG00733, HG00514
Known GenesP4HA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3535437
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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