A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281616



Internal ID22135867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:116547506..116558427hg38UCSC Ensembl
Outerchr10:118307018..118317939hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3810922
hg1910922
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223618
Supporting Variants
SamplesHG00513
Known GenesPNLIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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