A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480689



Internal ID22538593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175083535..175086280hg38UCSC Ensembl
chr2:175948263..175951008hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382746
hg192746
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832019
Supporting Variants
Samples
Known GenesATF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480689
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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