A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277431



Internal ID22275232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98916434..98946397hg38UCSC Ensembl
Outerchr10:100676191..100706154hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3829964
hg1929964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214967
Supporting Variants
SamplesNA19239
Known GenesHPSE2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277431
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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