A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245576



Internal ID22050186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168712737..168712737hg38UCSC Ensembl
chr1:168681975..168681975hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839070
Samples
Known GenesDPT
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245576
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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