A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088871



Internal ID21486562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54733522..54733581hg38UCSC Ensembl
chr12:55127306..55127365hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5604183
Supporting Variants
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088871
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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