A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425794



Internal ID22165859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29909281..29909426hg38UCSC Ensembl
chr13:30483418..30483563hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203837
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)nssv14425794
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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