A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252792



Internal ID22177420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:101838866..101861662hg38UCSC Ensembl
Outerchr10:103598623..103621419hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232527
Supporting Variants
SamplesHG00514
Known GenesC10orf76, KCNIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252792
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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