A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549335



Internal ID22418283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2727789..2727789hg38UCSC Ensembl
chr20:2708435..2708435hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383696
hg193696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449862
SamplesHG00733
Known GenesEBF4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549335
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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