A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420182



Internal ID22157635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1990422..1990422hg38UCSC Ensembl
chr2:1994194..1994194hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382468
hg192468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538865
Supporting Variants
SamplesHG00514
Known GenesMYT1L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420182
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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