A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193561



Internal ID22343994
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297141, nssv14297142
SamplesNA19239, NA19240
Known GenesDGKD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193561
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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