A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448440



Internal ID22243896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169362356..169362418hg38UCSC Ensembl
chr2:170218866..170218928hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184934
Supporting Variants
SamplesHG00733
Known GenesLRP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448440
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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