A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6426624



Internal ID21084177
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 StatusM
Merged Variants
Supporting Variantsnssv18220725
Samples
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6426624
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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