A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235378



Internal ID22373283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9798721..9837956hg38UCSC Ensembl
Outerchr4_gl000193_random:66035..105270hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3845938
hg1945938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5434n152
Supporting Variantsnssv14267971, nssv14267976, nssv14267972, nssv14267974, nssv14267973, nssv14267970, nssv14267975
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)nsv3235378
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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