A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395079



Internal ID22313562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63445632..63445693hg38UCSC Ensembl
chr20:62076985..62077046hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209277
Supporting Variants
SamplesNA19240
Known GenesKCNQ2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395079
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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