A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473967



Internal ID251643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130172152..130172288hg38UCSC Ensembl
chr7:129811992..129812128hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003211
Samples
Known GenesTMEM209
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473967
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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