A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220725



Internal ID20787765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129844538..130112455hg38UCSC Ensembl
chr8:130856784..131124701hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38267918
hg19267918
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426624
Supporting Variants
Samples
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220725
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer