A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194345



Internal ID22344667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19507937..19508769hg38UCSC Ensembl
chr1:19834431..19835263hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14356337
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194345
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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