A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325892



Internal ID22286505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3156720..3180156hg38UCSC Ensembl
chr6:3156954..3180390hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3823437
hg1923437
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199642
Supporting Variants
SamplesNA19240
Known GenesTUBB2A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325892
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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