A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265585



Internal ID22186591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223473487..223487079hg38UCSC Ensembl
Outerchr1:223646829..223660421hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227303
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265585
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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