A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553452



Internal ID22422333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124471587..124471587hg38UCSC Ensembl
chr10:126160156..126160156hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415281
SamplesHG00514
Known GenesLHPP
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)nsv3553452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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