A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299029



Internal ID22276003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232542151..232546100hg38UCSC Ensembl
chr2:233406861..233410810hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383950
hg193950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197063
Supporting Variants
SamplesNA19239
Known GenesCHRNG
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299029
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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