A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552575



Internal ID22421469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41031557..41031557hg38UCSC Ensembl
chr15:41323755..41323755hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380288
SamplesNA19240
Known GenesINO80
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)nsv3552575
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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