A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275523



Internal ID22261589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11353261..11382148hg38UCSC Ensembl
Outerchr10:11395260..11424147hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3828888
hg1928888
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213547
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275523
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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