A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372974



Internal ID22292268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79317772..79318057hg38UCSC Ensembl
chr1:79783457..79783742hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196015
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372974
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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