A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310645



Internal ID22233142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172689362..172689634hg38UCSC Ensembl
chr3:172407152..172407424hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204503
Supporting Variants
SamplesHG00733
Known GenesNCEH1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310645
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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