A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406566



Internal ID22305060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231441339..231441815hg38UCSC Ensembl
chr2:232306050..232306526hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199126
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)nssv14406566
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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