A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14340397



Internal ID22265051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30355428..30356117hg38UCSC Ensembl
chr8:30212944..30213633hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210701
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14340397
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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