A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225225



Internal ID22368423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166570301..166597521hg38UCSC Ensembl
Outerchr4:167491453..167518672hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382582
hg192582
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273078, nssv14273077, nssv14273079
SamplesNA19238, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225225
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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