A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596607



Internal ID21545216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53184098..53184159hg38UCSC Ensembl
chr12:53577882..53577943hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17090948
SamplesHG03125
Known GenesZNF740
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596607
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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