A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465577



Internal ID22217883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45904646..45904646hg38UCSC Ensembl
chr6:45872383..45872383hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536085
Supporting Variants
SamplesHG00733
Known GenesCLIC5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465577
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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