A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556479



Internal ID22425303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70063590..70063590hg38UCSC Ensembl
chr17:68059731..68059731hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381643
SamplesNA19240
Known GenesLINC01028
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3556479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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