A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493049



Internal ID270241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130200152..130200267hg38UCSC Ensembl
chr7:129839992..129840107hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003212
Samples
Known GenesTMEM209
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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