A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456041



Internal ID22250351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:98837549..98837724hg38UCSC Ensembl
chr3:98556393..98556568hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280168
Supporting Variants
SamplesHG00733
Known GenesDCBLD2
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)nssv14456041
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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