A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374589



Internal ID22296952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100163646..100163902hg38UCSC Ensembl
chr1:100629202..100629458hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195488
Supporting Variants
SamplesNA19240
Known GenesLRRC39
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14374589
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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