A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453396



Internal ID22248155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167875962..167876070hg38UCSC Ensembl
chr2:168732472..168732580hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280932
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14453396
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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