A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432857



Internal ID22175748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35389328..35389407hg38UCSC Ensembl
chr22:35785321..35785400hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3295148
Supporting Variants
SamplesHG00514
Known GenesHMOX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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