A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385707



Internal ID22301108
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 StatusS
Merged Variantsnsv3539814
Supporting Variants
SamplesNA19240
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)nssv14385707
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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