A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195488



Internal ID22345663
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374589
SamplesNA19240
Known GenesLRRC39
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195488
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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