A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296957



Internal ID22264423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204274150..204274150hg38UCSC Ensembl
chr2:205138873..205138873hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562795
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296957
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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