A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223970



Internal ID22367561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:174924168..174937944hg38UCSC Ensembl
Outerchr1:174893305..174907081hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265452, nssv14265455, nssv14265451, nssv14265453, nssv14265454, nssv14265458, nssv14265456, nssv14265457, nssv14265459
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRABGAP1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223970
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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