A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450074



Internal ID22245250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134605468..134605468hg38UCSC Ensembl
chr2:135363038..135363038hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535418
Supporting Variants
SamplesHG00733
Known GenesTMEM163
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450074
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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