A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484912



Internal ID262311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123149761..123248493hg38UCSC Ensembl
chr7:122789815..122888547hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3898733
hg1998733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003458
Samples
Known GenesSLC13A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484912
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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