A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449065



Internal ID227314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186702657..186702735hg38UCSC Ensembl
chr2:187567384..187567462hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922796
Samples
Known GenesFAM171B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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