A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448308



Internal ID22243784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14274478..14275383hg38UCSC Ensembl
chr2:14414602..14415507hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185194
Supporting Variants
SamplesHG00733
Known GenesLINC00276
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448308
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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