A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432156



Internal ID210909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64583844..64583895hg38UCSC Ensembl
chr12:64977624..64977675hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688626
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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