A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142888



Internal ID342089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130188504..130188566hg38UCSC Ensembl
chr8:131200750..131200812hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017223
Samples
Known GenesASAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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