A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326518



Internal ID22227623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43658245..43658604hg38UCSC Ensembl
chr6:43625982..43626341hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193440
Supporting Variants
SamplesHG00733
Known GenesRSPH9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326518
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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