A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255246



Internal ID22310133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9464430..9591975hg38UCSC Ensembl
Outerchr12:9617026..9744571hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127546
hg19127546
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226014
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255246
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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