A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288794



Internal ID22256071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18912995..18913083hg38UCSC Ensembl
chr2:19094261..19094349hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194349
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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