A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557260



Internal ID22426069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83695232..83695232hg38UCSC Ensembl
chr15:84363984..84363984hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419266
SamplesHG00514
Known GenesADAMTSL3
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)nsv3557260
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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