A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267782



Internal ID22274742
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220527
Supporting Variants
SamplesNA19239
Known GenesAMY1A, AMY1B, AMY1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267782
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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