A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255562



Internal ID22288514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30590018..30603535hg38UCSC Ensembl
Outerchr12:30742952..30756469hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3813518
hg1913518
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225215
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255562
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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