A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292560



Internal ID22130809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42763201..42766750hg38UCSC Ensembl
chr2:42990341..42993890hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190708
Supporting Variants
SamplesHG00513
Known GenesOXER1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292560
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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