A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687333



Internal ID110999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44121810..44121825hg38UCSC Ensembl
chr13:44695946..44695961hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3816
hg1916
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561120
Supporting Variants
Samples
Known GenesSMIM2-AS1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687333
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.005308


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