A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089281



Internal ID21412922
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 StatusS
Merged Variantsnsv5644546
Supporting Variants
SamplesHG00513
Known GenesAICDA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089281
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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