A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406530



Internal ID22325409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213155323..213155430hg38UCSC Ensembl
chr2:214020047..214020154hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183351
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)nssv14406530
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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