A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18078082



Internal ID20645122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143640291..143640686hg38UCSC Ensembl
chr2:144397860..144398255hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346128
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18078082
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00081


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