A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424682



Internal ID22164205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132256008..132256247hg38UCSC Ensembl
chr5:131591701..131591940hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184379
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)nssv14424682
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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