A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554336



Internal ID327527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61282307..61849272hg38UCSC Ensembl
chr8:62194866..62761831hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38566966
hg19566966
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012566
Samples
Known GenesASPH, CLVS1, MIR4470
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554336
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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