A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263883



Internal ID22255539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226451712..226473803hg38UCSC Ensembl
Outerchr2:227316428..227338519hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3822092
hg1922092
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203872
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263883
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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