A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532562



Internal ID22401889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181326641..181326641hg38UCSC Ensembl
chr5:180753642..180753642hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465983
SamplesHG00733
Known GenesLOC100132062, LOC100132287, LOC100133331
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)nsv3532562
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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