A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283980



Internal ID22382337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45051730..45051826hg38UCSC Ensembl
chr17:43129098..43129194hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404956
SamplesNA19240
Known GenesDCAKD
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)nsv3283980
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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