A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560181



Internal ID333195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87849214..87849265hg38UCSC Ensembl
chr7:87478529..87478580hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381507
hg191507
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002029
Samples
Known GenesSLC25A40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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