A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204963



Internal ID22353732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:4733428..4743245hg38UCSC Ensembl
Outerchr2:4781018..4790835hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg389818
hg199818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264834, nssv14264835, nssv14264832, nssv14264831, nssv14264839, nssv14264833, nssv14264838, nssv14264837, nssv14264836
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204963
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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