A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255236



Internal ID22117510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7658171..7671895hg38UCSC Ensembl
Outerchr12:7810767..7824491hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3813725
hg1913725
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223843
Supporting Variants
SamplesHG00512
Known GenesAPOBEC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255236
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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