A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647147



Internal ID21595452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65741580..65741580hg38UCSC Ensembl
chr12:66135360..66135360hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081676
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647147
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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