A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17601390



Internal ID21793437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48278385..48320197hg38UCSC Ensembl
chr12:48672168..48713980hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3841813
hg1941813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6027546
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17601390
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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