A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258348



Internal ID22192285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103107426..103110198hg38UCSC Ensembl
Outerchr14:103573763..103576535hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg382773
hg192773
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224852
Supporting Variants
SamplesHG00731
Known GenesEXOC3L4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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