A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449846



Internal ID22245107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230514199..230514299hg38UCSC Ensembl
chr2:231378914..231379014hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175267
Supporting Variants
SamplesHG00733
Known GenesSP100
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449846
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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