A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651692



Internal ID21599997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29172313..29172313hg38UCSC Ensembl
chr13:29746450..29746450hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381234
hg191234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17082352
SamplesHG00171
Known GenesMTUS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651692
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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