A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085437



Internal ID21468928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48500296..48500422hg38UCSC Ensembl
chr12:48894079..48894205hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5596760
Supporting Variants
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085437
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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