A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208505



Internal ID22356738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113476940..113535947hg38UCSC Ensembl
Outerchr1:114019562..114078569hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3859008
hg1959008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255814, nssv14255815
SamplesHG00512, HG00514
Known GenesMAGI3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208505
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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