A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253283



Internal ID22254430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9502726..9510357hg38UCSC Ensembl
Outerchr11:9524273..9531904hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387632
hg197632
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222433
Supporting Variants
SamplesNA19238
Known GenesZNF143
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253283
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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