A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481992



Internal ID22539897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202727837..202739979hg38UCSC Ensembl
chr2:203592560..203604702hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3812143
hg1912143
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832424
Supporting Variants
Samples
Known GenesFAM117B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481992
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