A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408795



Internal ID22313198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240157055..240159917hg38UCSC Ensembl
chr2:241096472..241099334hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382863
hg192863
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181924
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408795
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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