A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200130



Internal ID22349624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226293657..226310514hg38UCSC Ensembl
Outerchr2:227158373..227175230hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3816858
hg1916858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265280, nssv14265278, nssv14265279
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200130
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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