A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548985



Internal ID22417933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80274598..80274598hg38UCSC Ensembl
chr17:78248397..78248397hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419701, nssv14447333
SamplesHG00733, HG00514
Known GenesRNF213
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)nsv3548985
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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