A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469972



Internal ID247745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11059326..11087887hg38UCSC Ensembl
chr6:11059559..11088120hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3828562
hg1928562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979001
Samples
Known GenesELOVL2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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