A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214374



Internal ID22361048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17565207..17565607hg38UCSC Ensembl
chr19:17676016..17676416hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4168n152
Supporting Variantsnssv14432197
SamplesHG00514
Known GenesCOLGALT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214374
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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