A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270621



Internal ID22122538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49296429..49340299hg38UCSC Ensembl
Outerchr3:49333862..49377732hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381405
hg191405
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212420
Supporting Variants
SamplesHG00512
Known GenesUSP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270621
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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