A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261228



Internal ID22282084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:28335803..28360415hg38UCSC Ensembl
Outerchr1:28662314..28686926hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg385741
hg195741
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220004
Supporting Variants
SamplesNA19239
Known GenesMED18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261228
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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