A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194271



Internal ID22344605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207581111..207581359hg38UCSC Ensembl
chr1:207754456..207754704hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304635
SamplesHG00733
Known GenesCR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194271
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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