A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557069



Internal ID330183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51760382..51761182hg38UCSC Ensembl
chr8:52672942..52673742hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011550
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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