A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513129



Internal ID289660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47632604..47634956hg38UCSC Ensembl
chr11:47654156..47656508hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382353
hg192353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045365
Samples
Known GenesMTCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513129
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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