A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278089



Internal ID22137631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103221102..103243527hg38UCSC Ensembl
Outerchr7:102861549..102883974hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3822426
hg1922426
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217542
Supporting Variants
SamplesHG00513
Known GenesDPY19L2P2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278089
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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