A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277247



Internal ID22121715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22381615..22402011hg38UCSC Ensembl
Outerchr7:22421234..22441630hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3820397
hg1920397
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215601
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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