A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449863



Internal ID22221438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2727805..2727805hg38UCSC Ensembl
chr20:2708451..2708451hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545362
Supporting Variants
SamplesHG00733
Known GenesEBF4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449863
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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