A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556431



Internal ID22425256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56535896..56535896hg38UCSC Ensembl
chr16:56569808..56569808hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444682
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3556431
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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