A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264302



Internal ID22145937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146089069..146121608hg38UCSC Ensembl
Outerchr2:146846637..146879176hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3832540
hg1932540
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206049
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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