A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262300



Internal ID22273674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14840003..14861134hg38UCSC Ensembl
Outerchr18:14840002..14861133hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3821132
hg1921132
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218367
Supporting Variants
SamplesNA19239
Known GenesANKRD30B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262300
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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