A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326490



Internal ID22276234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42961801..42967775hg38UCSC Ensembl
chr6:42929539..42935513hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385975
hg195975
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190948
Supporting Variants
SamplesNA19239
Known GenesGNMT, PEX6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326490
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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