A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297513



Internal ID22283627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225663667..225663833hg38UCSC Ensembl
chr2:226528383..226528549hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196790
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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