A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686544



Internal ID110210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29580411..29580411hg38UCSC Ensembl
chr13:30154548..30154548hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539547
Supporting Variants
Samples
Known GenesSLC7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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