A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538270



Internal ID22407459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160569432..160569432hg38UCSC Ensembl
chr2:161425943..161425943hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381481
hg191481
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450160
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)nsv3538270
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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