A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475576



Internal ID253212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128499225..128499369hg38UCSC Ensembl
chr7:128139279..128139423hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005176
Samples
Known GenesMETTL2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475576
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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