A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276218



Internal ID22261023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75106189..75133453hg38UCSC Ensembl
Outerchr5:74402014..74429278hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384169
hg194169
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220368
Supporting Variants
SamplesNA19238
Known GenesANKRD31
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276218
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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