A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265225



Internal ID22186417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:81614168..81696094hg38UCSC Ensembl
Outerchr2:81841292..81923218hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3881927
hg1981927
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190559
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265225
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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