A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307254



Internal ID22204377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30827255..30827332hg38UCSC Ensembl
chr3:30868747..30868824hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198283
Supporting Variants
SamplesHG00732
Known GenesGADL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307254
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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