A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271218



Internal ID22152025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243978752..243983208hg38UCSC Ensembl
Outerchr1:244142054..244146510hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381828
hg191828
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224139
Supporting Variants
SamplesHG00514
Known GenesLOC339529
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271218
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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