A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277797



Internal ID22198911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94060584..94110909hg38UCSC Ensembl
Outerchr7:93689896..93740221hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3850326
hg1950326
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221734
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277797
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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