A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406356



Internal ID22464226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196698852..196701608hg38UCSC Ensembl
chr2:197563576..197566332hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905780
Supporting Variants
Samples
Known GenesCCDC150, LOC100130452
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406356
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