A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549992



Internal ID22418927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96415720..96415720hg38UCSC Ensembl
chr10:98175477..98175477hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440310
SamplesHG00733
Known GenesTLL2
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)nsv3549992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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