A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909205



Internal ID6925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16609791..16609842hg38UCSC Ensembl
chr2:16791059..16791110hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411655
Supporting Variants
Samples
Known GenesFAM49A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer