A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263384



Internal ID22254442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:107467908..107484301hg38UCSC Ensembl
Outerchr1:108010530..108026923hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382949
hg192949
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211048
Supporting Variants
SamplesNA19238
Known GenesNTNG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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