A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197186



Internal ID22347092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40836627..40836686hg38UCSC Ensembl
chr2:41063767..41063826hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292496, nssv14292495
SamplesHG00512, NA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197186
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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