A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394315



Internal ID22452185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550508..75586098hg38UCSC Ensembl
chr2:75777634..75813224hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835591
hg1935591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874173
Supporting Variants
Samples
Known GenesEVA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394315
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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