A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417682



Internal ID196873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170154656..170159124hg38UCSC Ensembl
chr1:170123797..170128265hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384469
hg194469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891607
Samples
Known GenesMETTL11B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417682
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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