A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433384



Internal ID22176310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69897913..69898434hg38UCSC Ensembl
chr2:70125045..70125566hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181034
Supporting Variants
SamplesHG00514
Known GenesSNRNP27
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433384
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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