A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255509



Internal ID22131418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8843953..8868554hg38UCSC Ensembl
Outerchr12:8996549..9021150hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3824602
hg1924602
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218907
Supporting Variants
SamplesHG00513
Known GenesA2ML1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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