A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290165



Internal ID22269460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8668324..8668404hg38UCSC Ensembl
chr2:8808454..8808534hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204015
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290165
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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