A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196317



Internal ID22346351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:76282643..76337471hg38UCSC Ensembl
Outerchr2:76509769..76564597hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3854829
hg1954829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264592, nssv14264587, nssv14264589, nssv14264593, nssv14264588, nssv14264585, nssv14264591, nssv14264590, nssv14264586
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)nsv3196317
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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