A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378432



Internal ID22293232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119109618..119109688hg38UCSC Ensembl
chr1:119652241..119652311hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179329
Supporting Variants
SamplesNA19240
Known GenesWARS2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378432
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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