A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192356



Internal ID22342955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:193202064..193257527hg38UCSC Ensembl
Outerchr1:193171194..193226657hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3855464
hg1955464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257262
SamplesHG00731
Known GenesCDC73
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192356
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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