A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264319



Internal ID22185955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159288814..159316471hg38UCSC Ensembl
Outerchr2:160145325..160172982hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3827658
hg1927658
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201538
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264319
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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