A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260623



Internal ID22268363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34970434..34981207hg38UCSC Ensembl
Outerchr17:33297453..33308226hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249359
Supporting Variants
SamplesNA19238
Known GenesLIG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260623
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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