A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217180



Internal ID22362922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150247864..150255410hg38UCSC Ensembl
Outerchr4:151169016..151176562hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3812612
hg1912612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274296, nssv14274297
SamplesHG00732, HG00733
Known GenesDCLK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217180
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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