A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598501



Internal ID21547128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108850110..108850229hg38UCSC Ensembl
chr12:109243886..109244005hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076759
SamplesNA19239
Known GenesSSH1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598501
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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