A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654814



Internal ID21603119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98490793..98490793hg38UCSC Ensembl
chr12:98884571..98884571hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17099062
SamplesHG00731
Known GenesLOC643770
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654814
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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