A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266353



Internal ID22135184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62716647..62762056hg38UCSC Ensembl
Outerchr20:61347999..61393408hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3845410
hg1945410
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215899
Supporting Variants
SamplesHG00513
Known GenesNTSR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266353
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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