A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555105



Internal ID328271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48371566..48371589hg38UCSC Ensembl
chr2:48598705..48598728hg19UCSC Ensembl
Cytoband2p16.3
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 Variantsnssv16913296
Samples
Known GenesFOXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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