A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265234



Internal ID22234519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:125601957..125632159hg38UCSC Ensembl
Outerchr2:126359534..126389736hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3830203
hg1930203
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192425
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265234
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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