A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451508



Internal ID22246540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175090788..175090919hg38UCSC Ensembl
chr3:174808578..174808709hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186478
Supporting Variants
SamplesHG00733
Known GenesNAALADL2, NAALADL2-AS3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451508
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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