A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394682



Internal ID22299341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231716061..231716120hg38UCSC Ensembl
chr2:232580771..232580830hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175931
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)nssv14394682
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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