A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547061



Internal ID22416040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88460995..88460995hg38UCSC Ensembl
chr16:88527403..88527403hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419371
SamplesHG00514
Known GenesZFPM1
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)nsv3547061
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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