A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275416



Internal ID22253700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69015155..69030186hg38UCSC Ensembl
Outerchr10:70774911..70789942hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3815032
hg1915032
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216836
Supporting Variants
SamplesNA19238
Known GenesKIAA1279
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275416
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer