A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265992



Internal ID22258075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235385909..235414418hg38UCSC Ensembl
Outerchr1:235549224..235577733hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg384041
hg194041
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221023
Supporting Variants
SamplesNA19238
Known GenesTBCE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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