A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369750



Internal ID22226971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101241792..101244074hg38UCSC Ensembl
chr13:101894143..101896425hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382283
hg192283
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224986
Supporting Variants
SamplesHG00733
Known GenesNALCN
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369750
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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