A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312037



Internal ID22204920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179727100..179728753hg38UCSC Ensembl
chr3:179444888..179446541hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg381654
hg191654
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208276
Supporting Variants
SamplesHG00732
Known GenesUSP13
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312037
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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