A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257060



Internal ID22255749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:38783876..38820263hg38UCSC Ensembl
Outerchr13:39358013..39394400hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3836388
hg1936388
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210645
Supporting Variants
SamplesNA19238
Known GenesFREM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257060
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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