A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265984



Internal ID22322677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:142821053..142823867hg38UCSC Ensembl
Outerchr2:143578622..143581436hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg383263
hg193263
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222095
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265984
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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