A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255543



Internal ID22253398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21942225..21983778hg38UCSC Ensembl
Outerchr12:22095159..22136712hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3841554
hg1941554
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212858
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255543
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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