A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455858



Internal ID22250207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6977629..6977709hg38UCSC Ensembl
chr4:6979356..6979436hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281019
Supporting Variants
SamplesHG00733
Known GenesTBC1D14
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)nssv14455858
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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