A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410475



Internal ID22316083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173100150..173100229hg38UCSC Ensembl
chr4:174021301..174021380hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282894
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14410475
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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