A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210402



Internal ID22358321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155953612..155957483hg38UCSC Ensembl
Outerchr4:156874764..156878635hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3812697
hg1912697
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274597, nssv14274594, nssv14274595, nssv14274593, nssv14274598, nssv14274596
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesCTSO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210402
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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