A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214484



Internal ID22361129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46451133..46473189hg38UCSC Ensembl
chr13:47025268..47047324hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3822057
hg1922057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2259n152
Supporting Variantsnssv14455610
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214484
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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