A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197063



Internal ID22346987
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299024, nssv14299029, nssv14299023, nssv14299022, nssv14299030, nssv14299027, nssv14299028, nssv14299026, nssv14299025
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCHRNG
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197063
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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