A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088276



Internal ID21433650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45554576..45554660hg38UCSC Ensembl
chr12:45948359..45948443hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5597215
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088276
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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