A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240815



Internal ID22045425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26940953..26940953hg38UCSC Ensembl
chr12:27093886..27093886hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845360
Samples
Known GenesFGFR1OP2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240815
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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