A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413605



Internal ID22148922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44876583..44876583hg38UCSC Ensembl
chr1:45342255..45342255hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542581
Supporting Variants
SamplesHG00514
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)nssv14413605
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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