A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272754



Internal ID22136463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:141638773..141685608hg38UCSC Ensembl
Outerchr4:142559926..142606761hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3846836
hg1946836
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201086
Supporting Variants
SamplesHG00513
Known GenesIL15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272754
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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