A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921017



Internal ID14792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169646367..169650482hg38UCSC Ensembl
chr2:170502877..170506992hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384116
hg194116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441644
Supporting Variants
Samples
Known GenesCCDC173
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921017
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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