A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005178



Internal ID71080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128500077..128605280hg38UCSC Ensembl
chr7:128140131..128245334hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38105204
hg19105204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491753
Supporting Variants
Samples
Known GenesMETTL2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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