A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204067



Internal ID22352980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65702146..65746183hg38UCSC Ensembl
Outerchr5:64997973..65042010hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3844038
hg1944038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274923, nssv14274922
SamplesNA19238, HG00732
Known GenesNLN, SGTB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204067
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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