A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203065



Internal ID22352138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144912185..145027125hg38UCSC Ensembl
Outerchr1:143981974..144095783hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38114941
hg19113810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256343
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203065
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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