A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17082351



Internal ID21450117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54129490..54129490hg38UCSC Ensembl
chr12:54523274..54523274hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5652850
Supporting Variants
SamplesHG01114
Known GenesLOC400043
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17082351
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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