A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200148



Internal ID22349639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13094375..13242101hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38147727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256528, nssv14256527
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200148
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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