A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394048



Internal ID173483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213092726..213092777hg38UCSC Ensembl
chr1:213266068..213266119hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897010
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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