A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275724



Internal ID22189967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14632990..14648149hg38UCSC Ensembl
Outerchr5:14633099..14648258hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210648
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275724
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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