A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493809



Internal ID270975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17321307..17321377hg38UCSC Ensembl
chr8:17178816..17178886hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008906
Samples
Known GenesMTMR7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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