A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407957



Internal ID22325054
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 StatusS
Merged Variantsnsv3282740
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)nssv14407957
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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