A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282740



Internal ID22381077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230275923..230276002hg38UCSC Ensembl
chr1:230411669..230411748hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457855, nssv14407957
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)nsv3282740
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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