A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265178



Internal ID22282607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218834798..218847949hg38UCSC Ensembl
Outerchr2:219699521..219712672hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221403
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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