A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422637



Internal ID22161246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62054767..62054767hg38UCSC Ensembl
chr20:60629823..60629823hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381587
hg191587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553409
Supporting Variants
SamplesHG00514
Known GenesTAF4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14422637
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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