A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200392



Internal ID22349849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226461208..226475712hg38UCSC Ensembl
Outerchr2:227325924..227340428hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3814505
hg1914505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263890, nssv14263886, nssv14263889, nssv14263884, nssv14263887, nssv14263885, nssv14263888
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200392
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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