A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485801



Internal ID22543714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11796703..11798902hg38UCSC Ensembl
chr2:11936829..11939028hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831188
Supporting Variants
Samples
Known GenesLPIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485801
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