A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539814



Internal ID22408968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230198350..230198350hg38UCSC Ensembl
chr1:230334096..230334096hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385707, nssv14438956
SamplesNA19240, HG00733
Known GenesGALNT2
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)nsv3539814
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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