A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424704



Internal ID22164241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142000075..142000075hg38UCSC Ensembl
chr5:141379640..141379640hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383484
hg193484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534695
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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