A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289162



Internal ID22158666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2766701..2770800hg38UCSC Ensembl
chr2:2770473..2774572hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190536
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289162
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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