A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310203



Internal ID22138193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184318557..184318829hg38UCSC Ensembl
chr3:184036345..184036617hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206804
Supporting Variants
SamplesHG00513
Known GenesEIF4G1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310203
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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