A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451731



Internal ID229904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60846728..60855409hg38UCSC Ensembl
chr2:61073863..61082544hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg388682
hg198682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914875
Samples
Known GenesFLJ16341
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451731
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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