A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428937



Internal ID207796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53093229..53093284hg38UCSC Ensembl
chr1:53558901..53558956hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903243
Samples
Known GenesSLC1A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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