A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461787



Internal ID22214367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:213118..213385hg38UCSC Ensembl
chr5:213233..213500hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283042
Supporting Variants
SamplesHG00733
Known GenesCCDC127
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)nssv14461787
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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