A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497413



Internal ID274448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29553456..29561718hg38UCSC Ensembl
chr13:30127593..30135855hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg388263
hg198263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686541
Samples
Known GenesSLC7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497413
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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