A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253580



Internal ID22257853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:90827308..90867122hg38UCSC Ensembl
Outerchr11:90560476..90600290hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3839815
hg1939815
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210635
Supporting Variants
SamplesNA19238
Known GenesDISC1FP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253580
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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