A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562504



Internal ID335457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174568354..174568405hg38UCSC Ensembl
chr2:175433082..175433133hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921104
Samples
Known GenesWIPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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