A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290178



Internal ID22263839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9392151..9401250hg38UCSC Ensembl
chr2:9532280..9541379hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204777
Supporting Variants
SamplesNA19238
Known GenesASAP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290178
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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