A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259971



Internal ID22064581
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 StatusM
Merged Variants
Supporting Variantsnssv17855235
Samples
Known GenesSLC7A14
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259971
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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