A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217929



Internal ID22363439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:7106916..7130665hg38UCSC Ensembl
Outerchr20:7087563..7111312hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3823750
hg1923750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266615, nssv14266617, nssv14266618, nssv14266611, nssv14266614, nssv14266613, nssv14266612, nssv14266616
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217929
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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