A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558409



Internal ID331474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16571319..16573172hg38UCSC Ensembl
chr2:16752587..16754440hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381854
hg191854
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909201
Samples
Known GenesFAM49A
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558409
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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