A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326505



Internal ID22282416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43337377..43346209hg38UCSC Ensembl
chr6:43305115..43313947hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg388833
hg198833
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200593
Supporting Variants
SamplesNA19239
Known GenesZNF318
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326505
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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