A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220527



Internal ID22365196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103668491..103761523hg38UCSC Ensembl
Outerchr1:104211113..104304145hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3889713
hg1989713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv351n152
Supporting Variantsnssv14267782, nssv14267780, nssv14267779, nssv14267781
SamplesHG00512, NA19239, HG00513, HG00514
Known GenesAMY1A, AMY1B, AMY1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220527
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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