A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276183



Internal ID22227443
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222472
Supporting Variants
SamplesHG00733
Known GenesAMY1A, AMY1B, AMY1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276183
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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