A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379455



Internal ID22328389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44876573..44876573hg38UCSC Ensembl
chr1:45342245..45342245hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534880
Supporting Variants
SamplesNA19240
Known GenesEIF2B3
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)nssv14379455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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