A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245611



Internal ID22050221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173642779..173642779hg38UCSC Ensembl
chr1:173611918..173611918hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839357
Samples
Known GenesANKRD45
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245611
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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