A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270952



Internal ID22122626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103731499..103761523hg38UCSC Ensembl
Outerchr1:104274121..104304145hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3893929
hg1993929
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214857
Supporting Variants
SamplesHG00512
Known GenesAMY1A, AMY1B, AMY1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270952
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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