A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407742



Internal ID187073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137008658..137008709hg38UCSC Ensembl
chr7:136693405..136693456hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002789
Samples
Known GenesCHRM2, LOC349160
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407742
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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