A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288668



Internal ID22387083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71928517..71928589hg38UCSC Ensembl
chr17:69924658..69924730hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3634n152
Supporting Variantsnssv14431356, nssv14407126
SamplesNA19240, HG00514
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)nsv3288668
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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