A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909976



Internal ID7428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10067065..10070546hg38UCSC Ensembl
chr2:10207192..10210673hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383482
hg193482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440393
Supporting Variants
Samples
Known GenesCYS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909976
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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