A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557575



Internal ID330669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24507062..24507096hg38UCSC Ensembl
chr1:24833552..24833586hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900358
Samples
Known GenesRCAN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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