A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260249



Internal ID22119210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31729421..31806485hg38UCSC Ensembl
Outerchr16:31740742..31817806hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3877065
hg1977065
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224273
Supporting Variants
SamplesHG00512
Known GenesZNF720
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260249
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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