A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193445



Internal ID22343891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22099917..22100045hg38UCSC Ensembl
chr1:22426410..22426538hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14355963
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193445
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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