A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087437



Internal ID21433990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45038593..45038674hg38UCSC Ensembl
chr12:45432376..45432457hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5592411
Supporting Variants
SamplesHG00731
Known GenesDBX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17087437
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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