A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215967



Internal ID22362119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182827329..182850268hg38UCSC Ensembl
Outerchr4:183748482..183771421hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385117
hg195117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273127, nssv14273126, nssv14273129, nssv14273128
SamplesNA19238, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215967
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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