A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453776



Internal ID22217470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240291..1240401hg38UCSC Ensembl
chr4:1234079..1234189hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281925
Supporting Variants
SamplesHG00733
Known GenesCTBP1
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)nssv14453776
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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