A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297142



Internal ID22306302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233470792..233470843hg38UCSC Ensembl
chr2:234379438..234379489hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193561
Supporting Variants
SamplesNA19240
Known GenesDGKD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297142
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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