A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240888



Internal ID22045498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32600606..32600606hg38UCSC Ensembl
chr12:32753540..32753540hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845425
Samples
Known GenesFGD4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240888
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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