A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417002



Internal ID22153001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77982211..77982278hg38UCSC Ensembl
chr13:78556346..78556413hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201151
Supporting Variants
SamplesHG00514
Known GenesLINC01069
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417002
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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