A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413143



Internal ID22148416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55240233..55241840hg38UCSC Ensembl
chr1:55705906..55707513hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381608
hg191608
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173217
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413143
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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