A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263564



Internal ID22307058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:87018435..87057631hg38UCSC Ensembl
Outerchr1:87484118..87523314hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg382107
hg192107
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210579
Supporting Variants
SamplesNA19240
Known GenesHS2ST1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263564
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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