A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544662



Internal ID22413695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53713973..53713973hg38UCSC Ensembl
chr20:52330512..52330512hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394798
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544662
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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