A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267695



Internal ID22121624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46046165..46187194hg38UCSC Ensembl
Outerchr21:47466079..47607108hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388051
hg198051
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234244
Supporting Variants
SamplesHG00512
Known GenesCOL6A2, FTCD, SPATC1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267695
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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