A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307943



Internal ID22280456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126551251..126555600hg38UCSC Ensembl
chr3:126270094..126274443hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384350
hg194350
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206934
Supporting Variants
SamplesNA19239
Known GenesC3orf22
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307943
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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