A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421306



Internal ID22159000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202986884..202986884hg38UCSC Ensembl
chr2:203851607..203851607hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537119
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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