A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390646



Internal ID22305716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154713955..154713955hg38UCSC Ensembl
chr1:154686431..154686431hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537520
Supporting Variants
SamplesNA19240
Known GenesKCNN3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390646
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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