A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252882



Internal ID22228963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:125425611..125519838hg38UCSC Ensembl
Outerchr10:127114180..127208407hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230489
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252882
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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