A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271627



Internal ID22152164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:155304689..155311132hg38UCSC Ensembl
Outerchr3:155022478..155028921hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg383534
hg193534
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210843
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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