A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560497



Internal ID333504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143648928..143648978hg38UCSC Ensembl
chr2:144406497..144406547hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919005
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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