A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283680



Internal ID22124295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:25385442..25450293hg38UCSC Ensembl
Outerchr10:25674371..25739222hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg385862
hg195862
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240406
Supporting Variants
SamplesHG00512
Known GenesGPR158
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283680
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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