A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845360



Internal ID22029003
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 StatusS
Merged Variantsnsv6240815
Supporting Variants
Samples
Known GenesFGFR1OP2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845360
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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