A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422811



Internal ID22161520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35628143..35628143hg38UCSC Ensembl
chr22:36024190..36024190hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3823767
hg1923767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557070
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14422811
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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