A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17855235



Internal ID22038878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170473065..170473065hg38UCSC Ensembl
chr3:170190853..170190853hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259971
Supporting Variants
Samples
Known GenesSLC7A14
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17855235
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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