A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921086



Internal ID14833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174383705..174383832hg38UCSC Ensembl
chr2:175248433..175248560hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447623
Supporting Variants
Samples
Known GenesCIR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921086
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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