A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17096358



Internal ID21510944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76893630..76893696hg38UCSC Ensembl
chr12:77287410..77287476hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5593339
Supporting Variants
SamplesNA24385
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17096358
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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