A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078547



Internal ID21463787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132275836..132275836hg38UCSC Ensembl
chr12:132852422..132852422hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5661779
Supporting Variants
SamplesHG03009
Known GenesGALNT9, LOC100130238
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078547
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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