A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394948



Internal ID22328565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181073420..181073582hg38UCSC Ensembl
chr2:181938147..181938309hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176093
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394948
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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