A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544553



Internal ID22413588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:129520529..129520529hg38UCSC Ensembl
chr10:131318793..131318793hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376800
SamplesNA19240
Known GenesMGMT
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)nsv3544553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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