A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256325



Internal ID22144773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:60112405..60140052hg38UCSC Ensembl
Outerchr12:60506186..60533833hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3827648
hg1927648
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215155
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256325
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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