A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255016



Internal ID22200003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8399455..8462305hg38UCSC Ensembl
Outerchr12:8552051..8614901hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3862851
hg1962851
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225665
Supporting Variants
SamplesHG00732
Known GenesCLEC6A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255016
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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