A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256319



Internal ID22144770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3191580..3205565hg38UCSC Ensembl
Outerchr12:3300746..3314731hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3813986
hg1913986
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210972
Supporting Variants
SamplesHG00514
Known GenesTSPAN9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256319
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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