A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283877



Internal ID22382233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39481632..39481690hg38UCSC Ensembl
chr17:37637885..37637943hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3554n152
Supporting Variantsnssv14431994, nssv14406745
SamplesNA19240, HG00514
Known GenesCDK12
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)nsv3283877
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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