A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214414



Internal ID22361081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60358327..60358423hg38UCSC Ensembl
chr13:60932461..60932557hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2296n152
Supporting Variantsnssv14400974
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)nsv3214414
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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