A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257169



Internal ID22132038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:41126665..41207973hg38UCSC Ensembl
Outerchr14:41595870..41677176hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3881309
hg1981307
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213989
Supporting Variants
SamplesHG00513
Known GenesLOC644919
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257169
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer