A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407604



Internal ID22296120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207279581..207282365hg38UCSC Ensembl
chr2:208144305..208147089hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382785
hg192785
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184129
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)nssv14407604
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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