A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448196



Internal ID22243688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70418679..70418679hg38UCSC Ensembl
chr2:70645811..70645811hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538861
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448196
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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