A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083657



Internal ID20650697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213718284..213721773hg38UCSC Ensembl
chr2:214583008..214586497hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383490
hg193490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349410
Supporting Variants
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083657
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00145


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