A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483412



Internal ID22541319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237645288..237650527hg38UCSC Ensembl
chr2:238553931..238559170hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385240
hg195240
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832572
Supporting Variants
Samples
Known GenesLRRFIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483412
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