A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415874



Internal ID195121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129456..53129931hg38UCSC Ensembl
chr1:53595128..53595603hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903258
Samples
Known GenesSLC1A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415874
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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