A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253641



Internal ID22254575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:123802334..123827894hg38UCSC Ensembl
Outerchr11:123673042..123698602hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3825561
hg1925561
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223554
Supporting Variants
SamplesNA19238
Known GenesOR6M1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253641
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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