A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553677



Internal ID22422554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49615986..49615986hg38UCSC Ensembl
chr20:48232523..48232523hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421601
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553677
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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