A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526280



Internal ID22395660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54197965..54198384hg38UCSC Ensembl
chr1:54663638..54664057hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365244, nssv14365243, nssv14365245
SamplesHG00512, NA19238, HG00514
Known GenesCYB5RL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526280
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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