A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402349



Internal ID22329415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88347709..88347863hg38UCSC Ensembl
chr13:88999964..89000118hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223636
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)nssv14402349
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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