A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373219



Internal ID22290485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23277267..23284727hg38UCSC Ensembl
chr1:23603760..23611220hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387461
hg197461
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180165
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)nssv14373219
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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