A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657121



Internal ID21605426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99139163..99139163hg38UCSC Ensembl
chr12:99532941..99532941hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092233
SamplesNA19983
Known GenesANKS1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657121
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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