A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269407



Internal ID22222045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40871814..40911296hg38UCSC Ensembl
Outerchr22:41267818..41307300hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3839483
hg1939483
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228739
Supporting Variants
SamplesHG00733
Known GenesXPNPEP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269407
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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