A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557005



Internal ID22425818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4735373..4735373hg38UCSC Ensembl
chr9:4735373..4735373hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401788
SamplesNA19240
Known GenesAK3
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)nsv3557005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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