A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292277



Internal ID22272214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33724801..33728150hg38UCSC Ensembl
chr2:33949868..33953217hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197690
Supporting Variants
SamplesNA19239
Known GenesMYADML
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292277
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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