A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267342



Internal ID22260134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234215667..234227631hg38UCSC Ensembl
Outerchr1:234351413..234363377hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381753
hg191753
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215499
Supporting Variants
SamplesNA19238
Known GenesSLC35F3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267342
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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