A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077022



Internal ID21451934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100040050..100040752hg38UCSC Ensembl
chr12:100433828..100434530hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5598472
Supporting Variants
SamplesHG01596
Known GenesUHRF1BP1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077022
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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