A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909200



Internal ID6920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16571318..16573172hg38UCSC Ensembl
chr2:16752586..16754440hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381855
hg191855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436251
Supporting Variants
Samples
Known GenesFAM49A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909200
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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