A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256897



Internal ID22283663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71763524..71764988hg38UCSC Ensembl
Outerchr13:72337656..72339120hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223709
Supporting Variants
SamplesNA19239
Known GenesDACH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256897
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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