A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644546



Internal ID21592851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8608228..8608228hg38UCSC Ensembl
chr12:8760824..8760824hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17089281
SamplesHG00513
Known GenesAICDA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644546
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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