A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199236



Internal ID22348852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232107443..232107494hg38UCSC Ensembl
chr1:232243189..232243240hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313011
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199236
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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