A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367953



Internal ID22204880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270029..30270254hg38UCSC Ensembl
chr13:30844166..30844391hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527758
Supporting Variants
SamplesHG00732
Known GenesKATNAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367953
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