A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561120



Internal ID334107
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 StatusM
Merged Variants
Supporting Variantsnssv17687333
Samples
Known GenesSMIM2-AS1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561120
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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