A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481996



Internal ID22539901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202820281..202822580hg38UCSC Ensembl
chr2:203685004..203687303hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832373
Supporting Variants
Samples
Known GenesICA1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481996
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