A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226612



Internal ID22369353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27251264..27251339hg38UCSC Ensembl
chr8:27108781..27108856hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9111n152
Supporting Variantsnssv14339648, nssv14339649
SamplesNA19239, HG00733
Known GenesSTMN4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226612
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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