A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265995



Internal ID22284580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170816111..170816800hg38UCSC Ensembl
Outerchr2:171672621..171673310hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225111
Supporting Variants
SamplesNA19239
Known GenesGAD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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