A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280432



Internal ID22185448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103167345..103175839hg38UCSC Ensembl
Outerchr10:104927102..104935596hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg388495
hg198495
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212970
Supporting Variants
SamplesHG00731
Known GenesNT5C2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280432
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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