A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258703



Internal ID22313021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23735875..23757234hg38UCSC Ensembl
Outerchr16:23747196..23768555hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3821360
hg1921360
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212285
Supporting Variants
SamplesNA19240
Known GenesCHP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258703
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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