A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245591



Internal ID22050201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170538538..170538538hg38UCSC Ensembl
chr1:170507679..170507679hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839789
Samples
Known GenesGORAB
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245591
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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