A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277279



Internal ID22132759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207359706..207384242hg38UCSC Ensembl
Outerchr1:207533051..207557587hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3824537
hg1924537
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192439
Supporting Variants
SamplesHG00513
Known GenesCD55
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277279
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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