A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256912



Internal ID22190622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101228957..101252525hg38UCSC Ensembl
Outerchr13:101881308..101904876hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3823569
hg1923569
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221111
Supporting Variants
SamplesHG00731
Known GenesNALCN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256912
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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