A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264393



Internal ID22202942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:136486527..136563577hg38UCSC Ensembl
Outerchr2:137244097..137321147hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3877051
hg1977051
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196711
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264393
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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