A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356223



Internal ID22581892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200816842..200817053hg38UCSC Ensembl
chr1:200785970..200786181hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885051
Supporting Variants
Samples
Known GenesCAMSAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356223
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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