A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547205



Internal ID321079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174310641..174310676hg38UCSC Ensembl
chr2:175175369..175175404hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921083
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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