A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284242



Internal ID22382603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81210000..81210105hg38UCSC Ensembl
chr17:79183800..79183905hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431623, nssv14463535
SamplesHG00733, HG00514
Known GenesAZI1
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)nsv3284242
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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