A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239073



Internal ID22374321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50896543..50896600hg38UCSC Ensembl
chr14:51363261..51363318hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430359
SamplesHG00514
Known GenesABHD12B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239073
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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