A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654461



Internal ID21602766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57291065..57291065hg38UCSC Ensembl
chr12:57684848..57684848hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087800
SamplesHG00096
Known GenesR3HDM2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654461
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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