A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449096



Internal ID22244452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32342707..32342707hg38UCSC Ensembl
chr21:33715016..33715016hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551926
Supporting Variants
SamplesHG00733
Known GenesURB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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