A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222472



Internal ID22366538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103637357..103761523hg38UCSC Ensembl
Outerchr1:104179979..104304145hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg382556
hg192556
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv351n152
Supporting Variantsnssv14276182, nssv14276183
SamplesHG00732, HG00733
Known GenesAMY1A, AMY1B, AMY1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222472
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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