A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312902



Internal ID22222276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54225451..54229050hg38UCSC Ensembl
chr4:55091618..55095217hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205681
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312902
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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