A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200105



Internal ID22349604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9767941..9826491hg38UCSC Ensembl
Outerchr1:9827999..9886549hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3858551
hg1958551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280265, nssv14280266
SamplesNA19238, HG00513
Known GenesCLSTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200105
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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