A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266563



Internal ID22203604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236707563..236722016hg38UCSC Ensembl
Outerchr1:236870863..236885316hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384616
hg194616
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223393
Supporting Variants
SamplesHG00732
Known GenesACTN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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