A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527758



Internal ID22397145
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2207n152
Supporting Variantsnssv14367953, nssv14367954, nssv14367951, nssv14367952
SamplesHG00731, HG00732, HG00733, HG00514
Known GenesKATNAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527758
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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