A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223302



Internal ID22367116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152206700..152228831hg38UCSC Ensembl
Outerchr1:152179176..152201307hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3817032
hg1917032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263267, nssv14271566, nssv14263269, nssv14271567, nssv14263268
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known GenesHRNR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223302
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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