A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310530



Internal ID22124447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168385498..168385792hg38UCSC Ensembl
chr3:168103286..168103580hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525923
Supporting Variants
SamplesHG00512
Known GenesEGFEM1P
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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