A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225649



Internal ID22368716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34993694..34993767hg38UCSC Ensembl
chr21:36365991..36366064hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301923, nssv14301924
SamplesNA19238, NA19239
Known GenesRUNX1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225649
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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