A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258914



Internal ID22201272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28136664..28245622hg38UCSC Ensembl
Outerchr14:28605870..28714828hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38108959
hg19108959
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215807
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258914
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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