A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14358228



Internal ID22196654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47674512..47674834hg38UCSC Ensembl
chr11:47696064..47696386hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223889
Supporting Variants
SamplesHG00731
Known GenesAGBL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14358228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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